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12. Immunogenicity and safety of BNT162b2 vaccination in adolescents with systemic lupus erythematosus.

Author

Piyaphanee, Nuntawan, Charuvanij, Sirirat, Thepveera, Sutheera, Toh, Zheng Quan, Licciardi, Paul V., Pattaragarn, Anirut, Wongprompitak, Patimaporn, Boonnak, Kobporn, Pheerapanyawaranun, Chatkamol, and Chokephaibulkit, Kulkanya

Subjects
*SYSTEMIC lupus erythematosus, *IMMUNE response, *COVID-19 vaccines, *VACCINE effectiveness, *SARS-CoV-2 Omicron variant
Abstract

Objectives: We evaluated the immunogenicity and safety of BNT162b2 vaccination in adolescents with systemic lupus erythematosus (adoSLE) receiving either high- or low-dose immunosuppressant (High-IS and Low-IS). Methods: Patients aged 12–18 years diagnosed with SLE were enrolled. High-IS was defined as >7.5 mg/day prednisolone or with other immunosuppressant, while Low-IS was defined as only ≤7.5 mg/day of prednisolone and no immunosuppressant. Two doses of BNT162b2 vaccination were given 4 weeks apart, followed by a booster (third) dose at 4–6 months later. Anti-spike receptor binding domain (anti-RBD) IgG against Wuhan, neutralising antibody (NT) against Wuhan and Omicron variants, and cellular immune response by IFN-γ-ELISpot assay were evaluated following vaccination. Adverse events (AEs) and SLE flare were monitored. Results: A total of 73 participants were enrolled, 40 and 33 in the High-IS and Low-IS group, respectively. At 4 weeks following the 2nd dose, overall anti-RBD IgG seropositivity was 97.3%, with no difference between the groups (p =.498). AdoSLE on High-IS had lower anti-RBD IgG (p <.001), Wuhan NT (p <.001), and IFN-γ-ELISpot (p =.022) than those on Low-IS. A 3rd dose induced significantly higher antibody responses than after the 2nd dose (p <.001) in both groups and established seroconversion against Omicron variants, with persistent lower antibody levels in High-IS group. SELENA-SLEDAI scores within 12 weeks after 2-dose vaccination was higher than before vaccination (3.1 vs 2.5; p <.036); however, the occurrence of disease flare by SELENA-SLEDAI flare index was not different after vaccination compared to before vaccination, consistent across groups. Non-severe AEs occurred similarly in both groups. Conclusion: AdoSLE on High-IS induced lower SARS-CoV-2 vaccine immune responses than Low-IS. Vaccination can increase disease activity and requires close monitoring for disease flare. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Bone Mineral Density and Serum 25OHD in Children and Adolescents With Juvenile Idiopathic Arthritis.

Author

Charuvanij, Sirirat, Malakorn, Hathaikan, Densupsoontorn, Narumon, and Nakavachara, Pairunyar

Subjects
*CONFIDENCE intervals, *PHOTON absorptiometry, *CROSS-sectional method, *JUVENILE idiopathic arthritis, *VITAMIN D, *RESEARCH funding, *BONE density, *CHILDREN, *ADOLESCENCE
Abstract

Low bone mass is one of the complications of juvenile idiopathic arthritis (JIA). However, a study focusing on the low bone mass in children and adolescents with JIA in Southeast Asian countries is limited. This study aimed to evaluate the bone mineral density (BMD) of Thai patients with JIA and identify factors correlated with BMD. A cross-sectional study was conducted at a tertiary-care center. The BMD of the lumbar spines (BMDLS) and the total body (BMDTB) were measured by dual-energy X-ray absorptiometry. Thirty-eight patients were enrolled between July 2015 and January 2016. No patient had low BMDLS, and only 2 (5.3%) had low BMDTB. Serum 25-hydroxyvitamin D (25OHD) levels were significantly positively correlated with the BMDTB Z -score (coefficient: 0.047; 95% confidence interval = 0.011-0.082; P =.012). Our study demonstrated a very low prevalence of low bone mass. Optimization of the serum 25OHD level should be encouraged. [ABSTRACT FROM AUTHOR]

Published
2023
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16. Neonatal Multisystem Inflammatory Syndrome (MIS-N): The First Case Report in Thailand.

Author

Sojisirikul, Nophathai, Lapphra, Keswadee, Ngerncham, Sopapan, Charuvanij, Sirirat, Durongpisitkul, Kritvikrom, Curlin, Marcel E., and Chokephaibulkit, Kulkanya

Subjects
MULTISYSTEM inflammatory syndrome in children, GESTATIONAL age, TACHYCARDIA, ECHOCARDIOGRAPHY
Abstract

Cases of multisystem inflammatory syndrome in children (MIS-C-like disease), have rarely been reported in neonates. A 33-week gestational age twin B female neonate presented with respiratory distress, tachycardia, and abdominal distention at 15 days of age. Echocardiogram found reduced left ventricular ejection fraction to 33%. Cardiac enzyme levels were all elevated: creatine kinase-MB 6.1 ng/mL (normal 0–4.5 ng/mL), troponin-T 170 ng/L (normal < 14 ng/L) and NT-proBNP > 35,000 pg/mL (normal 250.0 to 3987.0 pg/mL). Multiplex PCR of nasopharyngeal swab material was negative for respiratory pathogens. Serological tests revealed negative anti-spike SARS-CoV-2 IgM but positive anti-nucleocapsid SARS-CoV-2 IgG in both the mother and the patient. The mother provided a history of COVID-19 during pregnancy at 19 weeks gestation. The patient was diagnosed with neonatal multisystem inflammatory syndrome (MIS-N) and successfully treated with intravenous immunoglobulin (two doses of 1 gm/kg/dose) and methylprednisolone (2 mg/kg/day for 5 days then tapered off). She later developed coronary vessel (LMCA and RCA) dilation. The non-identical twin A did not develop MIS-N, suggesting a role of host genetic background. Newborn infants born to SARS-CoV-2-infected mothers at any time during pregnancy should be closely monitored for MIS-N. The optimal treatment approaches to this syndrome and the prognosis require further study. [ABSTRACT FROM AUTHOR]

Published
2022
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17. Synovial osteochondromatosis mimicking juvenile idiopathic arthritis in an adolescent: a case-based review.

Author

Yothakol, Napapas, Charuvanij, Sirirat, Siriwanarangsun, Palanan, Lertwanich, Pisit, Muangsomboon, Sorranart, and Sukharomana, Maynart

Subjects
*JUVENILE idiopathic arthritis, *TEENAGE girls, *JOINT pain, *TEENAGERS, *MAGNETIC resonance imaging
Abstract

Synovial osteochondromatosis is an extremely rare benign condition in children and adolescents that have joint pain as a presenting manifestation. It is usually monoarticular with the knee as the most common affected joint. In this article, we describe the case of a female adolescent suffering from debilitating chronic right knee pain initially mimicking juvenile idiopathic arthritis, who was subsequently diagnosed with primary synovial osteochondromatosis. We present a review of synovial osteochondromatosis focusing on the clinical manifestations, radiographic features, histopathologic findings, and treatment, with a summarized review of pediatric patients with initial musculoskeletal presentations who were ultimately diagnosed as synovial osteochondromatosis. Although synovial osteochondromatosis is rare in children and adolescents, this condition should be included in the differential diagnosis of joint pain and may mimic juvenile idiopathic arthritis. Appropriate diagnostic radiography, including both plain radiography and magnetic resonance imaging, is necessary to accurately diagnose this condition. We also emphasize the importance of a multidisciplinary team approach to managing patients with synovial osteochondromatosis. [ABSTRACT FROM AUTHOR]

Published
2022
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18. Juvenile dermatomyositis in Thai children: Retrospective review of 30 cases from a tertiary care center.

Author

Nitiyarom, Rattanavalai, Charuvanij, Sirirat, Likasitwattanakul, Surachai, Thanoophunchai, Chaiwat, and Wisuthsarewong, Wanee

Abstract

Background: Juvenile dermatomyositis is a rare condition, but it is the most common idiopathic inflammatory myopathy in pediatric patients. Aim: To study the clinical manifestations, investigations, treatment, clinical course, and outcomes of juvenile dermatomyositis in Thai children. Method: This retrospective study included juvenile dermatomyositis patients treated at Siriraj Hospital, a 2,300-bed national tertiary referral center in Bangkok, Thailand, from 1994 to 2019. Results: Thirty patients (22 females and 8 males) were included with a female to male ratio of 2.7:1. Median age at diagnosis was 5.1 years (range, 2.6-14.8 years). Median duration of illness before diagnosis was 6.5 months (range, 0.3-84.0 months). Acute and subacute onset occurred in the majority of patients. Presenting symptoms included muscle weakness in 27/30 (90%), skin rash in 26/30 (86.7%), muscle pain in 17/26 (65.4%), and arthralgia in 4/18 (22.2%) of patients. Dermatologic examination revealed Gottron's rash, heliotrope rash, and periungual telangiectasia in 25/30 (83.3%), 21/30 (70.0%), and 15/24 (62.5%) of patients, respectively. Interestingly, scalp dermatitis was found in 8/21 (38.1%) of patients. The most commonly used treatment regimen in this series was a combination of prednisolone and methotrexate. During the median follow-up of 3.1 years (range, 0.0-18.5 years), only one-third of patients were seen to have monocyclic disease. Extraskeletal osteosarcoma at a previous lesion of calcinosis cutis was observed in one patient at 12 years after juvenile dermatomyositis onset. Limitations: This was a retrospective single-center study, and our results may not be generalizable to other healthcare settings. Prospective multicenter studies are needed to confirm the findings of this study. Conclusion: juvenile dermatomyositis usually poses a diagnostic and therapeutic challenge, which can be compounded by the ethnic variations in the clinical presentation, as observed in this study. Asian patients tend to present with acute or subacute onset of disease, and arthralgia and/or arthritis are less common than in Caucasian patients. Scalp dermatitis is not uncommon in pediatric juvenile dermatomyositis patients. An association between juvenile dermatomyositis and malignancy, though rare, can occur. [ABSTRACT FROM AUTHOR]

Published
2022
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20. Attitudes toward pediatric rheumatology among residency‐trained pediatricians.

Author

Chowichian, Monthira, Sonjaipanich, Suprapath, and Charuvanij, Sirirat

Subjects
HOSPITAL medical staff, RHEUMATOLOGY, ATTITUDE (Psychology), MEDICAL personnel, PEDIATRICS, QUESTIONNAIRES, SCALE analysis (Psychology), DESCRIPTIVE statistics
Abstract

Background: Pediatric rheumatology (PR) is a relatively new and rare subspecialty in emerging countries. This study aimed to investigate physicians' attitudes toward and real‐life clinical practice in PR among residency‐trained pediatricians in Thailand. Methods: An electronic questionnaire was developed and sent via email to pediatricians from Thailand who completed their residency training between 2007 and 2015. Confidence in treating and managing children with rheumatic diseases was rated using a 5‐point Likert scale. Results: The response rate was 281 out of 902 (31%), and the mean ± standard deviation age of respondents was 33.8 ± 2.7 years. Confidence was rated as adequate for history taking of children with rheumatic diseases (mean 2.76, 95% confidence interval [CI]: 2.66–2.91), but low for musculoskeletal (MSK) examination (2.42, 95% CI: 2.29–2.54), arthrocentesis (2.01, 95% CI: 1.91–2.11), and rheumatology investigation (2.49, 95% CI: 2.39–2.60). Confidence was high for diagnosis and management of Henoch‐Schönlein purpura (3.83, 95% CI: 3.74–3.92) and Kawasaki disease (3.46, 95% CI: 3.38–3.55), but low for juvenile idiopathic arthritis (JIA) (2.41, 95% CI: 2.30–2.52) and chronic systemic vasculitis (1.97, 95% CI: 1.85–2.08). Confidence to perform an MSK examination and arthrocentesis was significantly higher in respondents who had a full‐time pediatric rheumatologist working in their pediatric residency training center (P = 0.02, P = 0.01, respectively), and in those who had experienced a PR rotation (P < 0.001, P = 0.01, respectively). Most respondents agreed that more teaching in PR is essential (95.3%) and that case‐based discussion was the preferred teaching method. Conclusion: The self‐rated confidence of pediatricians was low in MSK examination, arthrocentesis, and rheumatology investigation and therefore, teaching on PR is needed. [ABSTRACT FROM AUTHOR]

Published
2021
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21. Acute epiglottitis as the initial presentation of pediatric Systemic Lupus Erythematosus

Author

Charuvanij Sirirat and Houghton Kristin M

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract We report a case of a 5-year old girl, who initially presented with acute epiglottitis, sepsis and multi-organ failure. She was subsequently diagnosed as having Systemic Lupus Erythematosus. To the best of our knowledge, this article describes the first case of Haemophilus influenzae type f epiglottitis as the initial presentation of SLE in childhood.

Published
2009
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22. Lupus enteritis as the sole presenting feature of systemic lupus erythematosus: case report and review of the literature.

Author

Chowichian, Monthira, Aanpreung, Prapun, Pongpaibul, Ananya, and Charuvanij, Sirirat

Subjects
SYSTEMIC lupus erythematosus, ENTERITIS, LITERATURE reviews, TEENAGE girls, ABDOMINAL pain
Abstract

Systemic lupus erythematosus (SLE) is a multisystem, autoimmune inflammatory disease which can affect any organ, including the gastrointestinal tract. Lupus enteritis is one of the manifestations of gastrointestinal involvement in SLE patients. However, it is exceedingly rare that lupus enteritis is the sole initial presentation of SLE. A 12-year-old Thai girl who had had recurrent abdominal pain for 2 months with no other signs of SLE on initial presentation is described. A single-balloon enteroscopy demonstrated segmental erythema of the proximal and mid-jejunum. Histopathology demonstrated active enteritis and submucosal vasculitis. On the basis of evidence of intestinal vasculitis, autoimmune profiles were performed; the results supported the possibility of SLE. She subsequently developed leucopenia, lymphopenia and an oral ulcer, leading to a robust diagnosis of SLE. Her clinical condition improved dramatically with prednisolone. Even though lupus enteritis is rare, it can be the initial presentation of SLE. In young adolescent girls with recurrent abdominal pain, the possibility of lupus enteritis should be borne in mind. [ABSTRACT FROM AUTHOR]

Published
2019
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23. Health‐related quality of life in children with early‐stage juvenile idiopathic arthritis.

Author

Charuvanij, Sirirat and Chaiyadech, Chollada

Subjects
*QUALITY of life, *MENTAL health, *CONFIDENCE intervals, *HEALTH status indicators, *QUESTIONNAIRES, *JUVENILE idiopathic arthritis, *CROSS-sectional method, *SEVERITY of illness index, *ODDS ratio, *CHILDREN
Abstract

Background: Juvenile idiopathic arthritis (JIA) is a chronic inflammatory disease resulting in physical and psychological disability. This study aimed to measure the health‐related quality of life (HRQOL) and identify factors influencing the HRQOL. Methods: We conducted a cross‐sectional study in Thai children with JIA and their parents between January and December 2015, using the Thai version of the Pediatrics Quality of Life (PedsQL) 4.0 generic core scale. Results: Sixty‐five children (33 girls and 32 boys) were included. The median age of the children was 9.6 (interquartile range [IQR] 6.4–12.3) years and the median disease duration was 1.1 (IQR 0.2–2.2) years. The physical health subscale had the lowest score, with a median (range) of 78.1 (34.4–100). Twenty‐five (45.4%) children were classified as having suboptimal HRQOL. The school functioning subscale had the lowest score, at 60 (25–100) reported by parents. High disease activity and a disease duration <1 year were significantly associated with suboptimal HRQOL reported by parents, with adjusted odds ratios (ORs) of 20.2 (95% confidence interval [CI] 1.4, 291.7) and 5.9 (95% CI 1.2, 33.3), respectively. Conclusions: Almost half of Thai children with JIA had suboptimal HRQOL. The physical health score was the lowest subscale reported by the children. Early, effective management of disease activity could improve the HRQOL in children with JIA. [ABSTRACT FROM AUTHOR]

Published
2019
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24. Comparing Presenting Clinical Features in 48 Children With Microscopic Polyangiitis to 183 Children Who Have Granulomatosis With Polyangiitis (Wegener's): An ARChiVe Cohort Study.

Author

Cabral, David A., Canter, Debra L., Muscal, Eyal, Nanda, Kabita, Wahezi, Dawn M., Spalding, Steven J., Twilt, Marinka, Benseler, Susanne M., Campillo, Sarah, Charuvanij, Sirirat, Dancey, Paul, Eberhard, Barbara A., Elder, Melissa E., Hersh, Aimee, Higgins, Gloria C., Huber, Adam M., Khubchandani, Raju, Kim, Susan, Klein‐Gitelman, Marisa, and Kostik, Mikhail M.

Subjects
GRANULOMATOSIS with polyangiitis diagnosis, CHI-squared test, COMPARATIVE studies, DEMOGRAPHY, DIFFERENTIAL diagnosis, FISHER exact test, PROBABILITY theory, RESEARCH funding, T-test (Statistics), GRANULOMATOSIS with polyangiitis, VASCULITIS, RETROSPECTIVE studies, DATA analysis software, DESCRIPTIVE statistics, MANN Whitney U Test, SYMPTOMS, DIAGNOSIS
Abstract

Objective To uniquely classify children with microscopic polyangiitis (MPA), to describe their demographic characteristics, presenting clinical features, and initial treatments in comparison to patients with granulomatosis with polyangiitis (Wegener's) (GPA). Methods The European Medicines Agency (EMA) classification algorithm was applied by computation to categorical data from patients recruited to the ARChiVe (A Registry for Childhood Vasculitis: e-entry) cohort, with the data censored to November 2015. The EMA algorithm was used to uniquely distinguish children with MPA from children with GPA, whose diagnoses had been classified according to both adult- and pediatric-specific criteria. Descriptive statistics were used for comparisons. Results In total, 231 of 440 patients (64% female) fulfilled the classification criteria for either MPA (n = 48) or GPA (n = 183). The median time to diagnosis was 1.6 months in the MPA group and 2.1 months in the GPA group (ranging to 39 and 73 months, respectively). Patients with MPA were significantly younger than those with GPA (median age 11 years versus 14 years). Constitutional features were equally common between the groups. In patients with MPA compared to those with GPA, pulmonary manifestations were less frequent (44% versus 74%) and less severe (primarily, hemorrhage, requirement for supplemental oxygen, and pulmonary failure). Renal pathologic features were frequently found in both groups (75% of patients with MPA versus 83% of patients with GPA) but tended toward greater severity in those with MPA (primarily, nephrotic-range proteinuria, requirement for dialysis, and end-stage renal disease). Airway/eye involvement was absent among patients with MPA, because these GPA-defining features preclude a diagnosis of MPA within the EMA algorithm. Similar proportions of patients with MPA and those with GPA received combination therapy with corticosteroids plus cyclophosphamide (69% and 78%, respectively) or both drugs in combination with plasmapheresis (19% and 22%, respectively). Other treatments administered, ranging in decreasing frequency from 13% to 3%, were rituximab, methotrexate, azathioprine, and mycophenolate mofetil. Conclusion Younger age at disease onset and, perhaps, both gastrointestinal manifestations and more severe kidney disease seem to characterize the clinical profile in children with MPA compared to those with GPA. Delay in diagnosis suggests that recognition of these systemic vasculitides is suboptimal. Compared with adults, initial treatment regimens in children were comparable, but the complete reversal of female-to-male disease prevalence ratios is a provocative finding. [ABSTRACT FROM AUTHOR]

Published
2016
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25. Severe Deferiprone-Induced Arthropathy in Young Adolescent Successfully Treated with Intraarticular Triamcinolone Acetonide Injection: A Case Report.

Author

Buaboonnam, Jassada and Charuvanij, Sirirat

Subjects
JOINT diseases, TRIAMCINOLONE acetonide, TREATMENT of arthritis, CHELATION therapy, ARTHROCENTESIS, THALASSEMIA treatment, DRUG side effects, NONSTEROIDAL anti-inflammatory agents, THERAPEUTICS
Abstract

Deferiprone (DFP), an oral chelation therapy, has improved treatment adherence and quality of life of transfusion dependent thalassemia (TDT). DFP-induced arthropathy is usually mild and self-limited; the severe DFP-induced arthropathy is uncommon presentation. Herein, a Thai girl diagnosed as TDT was initially treated with DFP. She subsequently developed severe DFP-induced bilateral knee arthritis despite discontinuing DFP and using non-steroidal anti-inflammatory drugs (NSAIDs). She was treated with arthrocentesis and intraarticular triamcinolone acetonide injection and responded well to the treatment. [ABSTRACT FROM AUTHOR]

Published
2017

26. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016

Author

Lomakina, Olga, Alekseeva, Ekaterina, Valieva, Sania, Bzarova, Tatiana, Nikishina, Irina, Zholobova, Elena, Rodionovskaya, Svetlana, Kaleda, Maria, Nakagishi, Yasuo, Shimizu, Masaki, Mizuta, Mao, Yachie, Akihiro, Sugita, Yuko, Okamoto, Nami, Shabana, Kousuke, Murata, Takuji, Tamai, Hiroshi, Smith, Eve M., Yin, Peng, Jorgensen, Andrea L., Beresford, Michael W., Eleuteri, Antonio, Goilav, Beatrice, Lewandowski, Laura, Phuti, Angel, Wahezi, Dawn, Rubinstein, Tamar, Jones, Caroline, Newland, Paul, Marks, Stephen, Corkhill, Rachel, Ekdawy, Diana, Pilkington, Clarissa, Tullus, Kjell, Putterman, Chaim, Scott, Chris, Fisher, Antony C., Jorgensen, Andrea, Batu, Ezgi Deniz, Kosukcu, Can, Taskiran, Ekim, Akman, Sema, Ozturk, Kubra, Sozeri, Betul, Unsal, Erbil, Ekinci, Zelal, Bilginer, Yelda, Alikasifoglu, Mehmet, Ozen, Seza, Lythgoe, Hanna, Brunner, Hermine I., Gulati, Gaurav, Jones, Jordan T., Altaye, Mekibib, Eaton, Jamie, Difrancesco, Mark, Yeo, Joo Guan, Leong, Jingyao, Bathi, Loshinidevi D/O Thana, Arkachaisri, Thaschawee, Albani, Salvatore, Abdelrahman, Nagla, Beresford, Michael W, Leone, Valentina, Groot, Noortje, Shaikhani, D., Bultink, I. E. M., Bijl, M., Dolhain, R. J. E. M., Teng, Y. K. O., Zirkzee, E., de Leeuw, K., Fritsch-Stork, R., Kamphuis, S. S. M., Wright, Rachael D., Abdawani, Reem, Al Shaqshi, Laila, Al Zakwani, Ibrahim, Gormezano, Natali W., Kern, David, Pereira, Oriany L., Esteves, Gladys C. C., Sallum, Adriana M., Aikawa, Nadia E., Pereira, Rosa M., Silva, Clovis A., Bonfa, Eloisa, Beckmann, Jessica, Bartholomä, Nora, Venhoff, Nils, Henneke, Philipp, Salzer, Ulrich, Janda, Ales, Boteanu, Alina Lucica, Corral, Sandra Garrote, Giraldo, Alberto Sifuentes, Gámir, Mariluz Gámir, Mendoza, Antonio Zea, Adrovic, Amra, Dedeoglu, Reyhan, Sahin, Sezgin, Barut, Kenan, Koka, Aida, Oztunc, Funda, Kasapcopur, Ozgur, Rodriguez-Lozano, Ana Luisa, Rivas-Larrauri, Francisco, de la Puente, Silvestre García, Alves, Andressa G. F., Giacomin, Maria F. D. A., Farhat, Juliana, Braga, Alfésio L. F., Sallum, Adriana M. E., Campos, Lúcia M. D. A., Pereira, Luiz A. A., Lichtenfels, Ana J. D. F. C., Silva, Clóvis A., Farhat, Sylvia C. L., Acar, Banu, Ozcakar, Z. Birsin, Çakar, Nilgün, Uncu, Nermin, Gür, Gökçe, Özdel, Semanur, Yalçınkaya, Fatoş, Scott, Christiaan, Brice, Nicky, Nourse, Peter, Arango, Christine, Mosquera, Angela C., Malagon, Clara, Sakamoto, Ana P., Silva, Marco F. C. D., Lopes, Ananadreia S., Russo, Gleice C. S., Sallum, Adriana E. M., Kozu, Katia, Bonfá, Eloisa, Saad-Magalhães, Claudia, Pereira, Rosa M. R., Len, Claudio A., Terreri, Maria T., Suri, Deepti, Didel, Siyaram, Rawat, Amit, Singh, Surjit, Maritsi, Despoina, Onoufriou, MArgarita, Vougiouka, Olga, Tsolia, Maria, Bosak, Edi Paleka, Vidović, Mandica, Lamot, Mirta, Lamot, Lovro, Harjaček, Miroslav, Van Nieuwenhove, Erika, Liston, Adrian, Wouters, Carine, Tahghighi, Fatemeh, Ziaee, Vahid, Raeeskarami, Seid-Reza, Aguiar, Francisca, Pereira, Sandra, Rodrigues, Mariana, Moura, Cláudia, Rocha, Gustavo, Guimarães, Hercília, Brito, Iva, Fonseca, Rita, Horneff, Gerd, Klein, Ariane, Minden, Kirsten, Huppertz, Hans-Iko, Weller-Heinemann, Frank, Kuemmerle-Deschner, Jasmin, Haas, J-Peter, Hospach, Anton, Menendez-Castro, Ricardo, Huegle, Boris, Haas, Johannes-Peter, Swart, Joost, Giancane, Gabriella, Bovis, Francesca, Castagnola, Elio, Groll, Andreas, Lovell, Daniel J., Wolfs, Tom, Hofer, Michael, Panaviene, Violeta, Nielsen, Susan, Anton, Jordi, Uettwiller, Florence, Stanevicha, Valda, Trachana, Maria, Marafon, Denise Pires, Ailioaie, Constantin, Tsitsami, Elena, Kamphuis, Sylvia, Herlin, Troels, Doležalová, Pavla, Susic, Gordana, Flatø, Berit, Sztajnbok, Flavio, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Gattorno, Marco, Brucato, Antonio, Finetti, Martina, Lazaros, George, Maestroni, Silvia, Carraro, Mara, Cumetti, Davide, Carobbio, Alessandra, Lorini, Monia, Rimini, Alessandro, Marcolongo, Renzo, Valenti, Anna, Erre, Gian Luca, Belli, Riccardo, Gaita, Fiorenzo, Sormani, Maria Pia, Imazio, Massimo, Abinun, Mario, Smith, Nicola, Rapley, Tim, McErlane, Flora, Kearsley-Fleet, Lianne, Hyrich, Kimme L., Foster, Helen, Tzaribachev, Nikolay, Zeft, Andrew, Cimaz, Rolando, Bohnsack, John, Griffin, Thomas, Carrasco, Ruy, Dare, Jason, Foeldvari, Ivan, Vehe, Richard, Simon, Teresa, Brunner, Hermine, Verazza, S., Davì, S., Consolaro, A., Insalaco, A., Gerloni, V., Cimaz, R., Zulian, F., Pastore, S., Corona, F., Conti, G., Barone, P., Cattalini, M., Cortis, E., Breda, L., Olivieri, A. N., Civino, A., Podda, R., Rigante, D., La Torre, F., D’Angelo, G., Jorini, M., Gallizzi, R., Maggio, M. C., Consolini, R., De Fanti, A., Alpigiani, M. G., Martini, A., Ravelli, A., Kısaarslan, Aysenur Pac, Gunduz, Zubeyde, Dusunsel, Ruhan, Dursun, Ismail, Poyrazoglu, Hakan, Kuchinskaya, Ekaterina, Abduragimova, Farida, Kostik, Mikhail, Sundberg, Erik, Omarsdottir, Soley, Klevenvall, Lena, Erlandsson-Harris, Helena, Basbozkurt, Gokalp, Erdemli, Ozge, Simsek, Dogan, Yazici, Fatih, Karsioglu, Yildirim, Tezcaner, Aysen, Keskin, Dilek, Ozkan, Huseyin, Acikel, Cengizhan, Demirkaya, Erkan, Orbán, Ilonka, Sevcic, Krisztina, Brodszky, Valentin, Kiss, Emese, Tekko, Ismaiel A., Rooney, Madeleine, McElnay, James, Taggart, Cliff, McCarthy, Helen, Donnelly, Ryan F., Slatter, Mary, Nademi, Zohreh, Friswell, Mark, Jandial, Sharmila, Flood, Terence, Hambleton, Sophie, Gennery, Andrew, Cant, Andrew, Duong, Phoi-Ngoc, Koné-Paut, Isabelle, Filocamo, Giovanni, Gamir, María Luz, Sanner, Helga, Carenini, Laura, Topdemir, Mesut, Karslioglu, Yildirim, Gok, Faysal, Tsurikova, Nadezhda, Ligostaeva, Elena, Ramchurn, Navdha R., Kostareva, O., Nikishina, I., Arsenyeva, S., Rodionovskaya, S., Kaleda, M., Alexeev, D., Dursun, Ismail Dursun, Murias, Sara, Barral, Estefania, Alcobendas, Rosa, Enriquez, Eugenia, Remesal, Agustin, de Inocencio, Jaime, Castro, Tania M., Lotufo, Simone A., Freye, Tatjana, Carlomagno, Raffaella, Zumbrunn, Thomas, Bonhoeffer, Jan, Schneider, Elvira Cannizzaro, Kaiser, Daniela, Hofer, Michaël, Hentgen, Véronique, Woerner, Andreas, Schwarz, Tobias, Klotsche, Jens, Niewerth, Martina, Ganser, Gerd, Jeyaratnam, Jerold, ter Haar, Nienke, Rigante, Donato, Dedeoglu, Fatma, Baris, Ezgi, Vastert, Sebastiaan, Frenkel, Joost, Hausmann, Jonathan S., Lomax, Kathleen G., Shapiro, Ari, Durrant, Karen L., Brogan, P. A., Hofer, M., Kuemmerle-Deschner, J. B., Lauwerys, B., Speziale, A., Leon, K., Wei, X., Laxer, R. M., Signa, Sara, Rusmini, Marta, Campione, Elena, Chiesa, Sabrina, Grossi, Alice, Omenetti, Alessia, Caorsi, Roberta, Viglizzo, Gianmaria, Ceccherini, Isabella, Federici, Silvia, Lachmann, Helen, Ruperto, Nicola, Vanoni, Federica, Gomes, Sonia Melo, Omoyinmi, Ebun, Arostegui, Juan I., Gonzalez-Roca, Eva, Eleftheriou, Despina, Klein, Nigel, Brogan, Paul, Volpi, Stefano, Santori, Elettra, Picco, Paolo, Pastorino, Claudia, Rice, Gillian, Tesser, Alessandra, Crow, Yanick, Candotti, Fabio, Sinoplu, Ada B., Yucel, Gozde, Pamuk, Gizem, Damian, Laura O., Lazea, Cecilia, Sparchez, Mihaela, Vele, Paulina, Muntean, Laura, Albu, Adriana, Rednic, Simona, Lazar, Calin, Mendonça, Leonardo O., Pontillo, Alessandra, Kalil, Jorge, Castro, Fabio M., Barros, Myrthes T., Pardeo, Manuela, Messia, Virginia, De Benedetti, Fabrizio, Insalaco, Antonella, Malighetti, Giorgia, Gorio, Chiara, Ricci, Francesca, Parissenti, Ilaria, Montesano, Paola, Bonafini, Barbara, Medeghini, Veronica, Cattalini, Marco, Giordano, Lucio, Zani, Giulia, Ferraro, Rosalba, Vairo, Donatella, Giliani, Silvia, Maggio, Maria Cristina, Luppino, Girolamo, Corsello, Giovanni, Fernandez, Maria Isabel Gonzalez, Montesinos, Berta Lopez, Vidal, Adriana Rodriguez, Gorospe, Juan I. Arostegui, Penades, Inmaculada Calvo, Rafiq, Nadia K., Wynne, Karen, Hussain, Khalid, Brogan, Paul A., Ang, Elizabeth, Ng, Nicholas, Kacar, Ayla, Gucenmez, Ozge Altug, Makay, Balahan, Unsal, Sevket Erbil, Sahin, Yasin, Kutlu, Tufan, Cullu-Cokugras, Fugen, Ayyildiz-Civan, Hasret, Erkan, Tulay, Al Zuhbi, Sana, Abdalla, Eiman, Russo, Ricardo A., Katsicas, María M., Minoia, Francesca, Ravelli, Angelo, Bhattad, Sagar, Gupta, Anju, Pandiarajan, Vignesh, Nada, Ritambhra, Tiewsoh, Kaara, Hawkins, Philip, Rowczenio, Dorota, Fingerhutova, Sarka, Franova, Jana, Prochazkova, Leona, Hlavackova, Eva, Dolezalova, Pavla, Evrengül, Havva, Yüksel, Selçuk, Doğan, Mustafa, Gürses, Dolunay, Evrengül, Harun, De Pauli, Silvia, Pastore, Serena, Bianco, Anna Monica, Severini, Giovanni Maria, Taddio, Andrea, Tommasini, Alberto, Salugina, Svetlana O., Fedorov, Evgeny, Kamenets, Elena, Zaharova, Ekaterina, Sleptsova, Tatiana, Alexeeva, Ekaterina, Savostyanov, Kirill, Pushkov, Alexander, Bzarova, Tatyana, Valieva, Saniya, Denisova, Rina, Isayeva, Kseniya, Chistyakova, Evgeniya, Soloshenko, Margarita, Kaschenko, Elena, Kaneko, Utako, Imai, Chihaya, Saitoh, Akihiko, Teixeira, Vitor A., Ramos, Filipa O., Costa, Manuela, Aviel, Yonatan Butbul, Fahoum, Shafe, Brik, Riva, Özçakar, Zeynep Birsin, Celikel, Banu Acar, Yalcinkaya, Fatos, Schiappapietra, Benedetta, Davi’, Sergio, Mongini, Federica, Giannone, Luisa, Bava, Cecilia, Alpigiani, Maria Giannina, Consolaro, Alessandro, Lazarevic, Dragana S., Vojinovic, Jelena, Basic, Jelena, Muratore, Valentina, Marzetti, Valentina, Quilis, Neus, Benavente, Belen Serrano, Alongi, Alessandra, Civino, Adele, Quartulli, Lorenzo, Januskeviciute, Giedre, van Dijkhuizen, Pieter, Groot, N., van Dijk, W., Kardolus, A., Suárez, Raul Gutiérrez, Nordal, Ellen B., Rypdal, Veronika G., Berntson, Lillemor, Ekelund, Maria, Aalto, Kristiina, Peltoniemi, Suvi, Zak, Marek, Glerup, Mia, Arnstad, Ellen D., Fasth, Anders, Rygg, Marite, Duarte, Ana Catarina, Sousa, Sandra, Teixeira, Lídia, Cordeiro, Ana, Santos, Mª José, Mourão, Ana Filipa, Santos, Maria José, Eusébio, Mónica, Lopes, Ana, Oliveira-Ramos, Filipa, Salgado, Manuel, Estanqueiro, Paula, Melo-Gomes, José, Martins, Fernando, Costa, José, Furtado, Carolina, Figueira, Ricardo, Branco, Jaime C., Fonseca, João E., Canhão, Helena, Mourão, Ana F., Santos, Maria Jose, Coda, Andrea, Cassidy, Samuel, West, Kerry, Hendry, Gordon, Grech, Debra, Jones, Julie, Hawke, Fiona, Grewal, Davinder Singh, Foley, Charlene, Killeen, Orla, MacDermott, Emma, Veale, Douglas, Fearon, Ursula, Konukbay, Dilek, Tarakci, Ela, Arman, Nilay, Şahin, Sezgin, Munro, Jane, Morgan, Esi, Riebschleger, Meredith, Horonjeff, Jennifer, Strand, Vibeke, Bingham, Clifton, Collante, Ma. Theresa M., Ganeva, Margarita, Stefanov, Stefan, Telcharova, Albena, Mihaylova, Dimitrina, Saraeva, Radoslava, Tzveova, Reni, Kaneva, Radka, Tsakova, Adelina, Temelkova, Katya, Picarelli, Maria Mercedes C., Danzmann, Luiz C., Barbé-Tuana, Florencia, Grun, Lucas K., Jones, Marcus H., Frković, Marijan, Ištuk, Karla, Birkić, Ika, Sršen, Saša, Jelušić, Marija, Easton, Alan, Quarmby, Rachael, Khubchandani, Raju, Chan, Mercedes, Srp, Radoslav, Kobrova, Katerina, Nemcova, Dana, Hoza, Jozef, Uher, Michal, Saifridova, Melania, Linkova, Lenka, Charuvanij, Sirirat, Leelayuwattanakul, Isree, Pacharapakornpong, Thita, Vallipakorn, Sakda A.-O., Lerkvaleekul, Butsabong, Vilaiyuk, Soamarat, Lanni, Stefano, Davì, Sergio, Cron, Randy Q., Passarelli, Chiara, Pisaneschi, Elisa, Novelli, Antonio, Bracaglia, Claudia, Caiello, Ivan, de Graaf, Kathy, Guilhot, Florence, Ferlin, Walter, Schulert, Grant, Grom, Alexi A., Nelson, Robert, de Min, Cristina, Holzinger, Dirk, Kessel, Christoph, Fall, Ndate, Grom, Alexei, de Jager, Wilco, Strippoli, Raffaele, Horne, Anna, Ehl, Stephan, Ammann, Sandra, Lehmberg, Kai, Beutel, Karin, Foell, Dirk, Horne, AnnaCarin, Pagani, Laura, Espada, Graciela, Gao, Yi-jin, Shenoi, Susan, Weitzman, Sheila, Prencipe, Giusi, Pascarella, Antonia, Ferlin, Walter G., Chatel, Laurence, Jacqmin, Philippe, De Graaf, Kathy, Ballabio, Maria, Johnson, Zoë, Lapeyre, Geneviève, de Benedetti, Fabrizio, Cristina, de Min, Wakiguchi, Hiroyuki, Hasegawa, Shunji, Hirano, Reiji, Okazaki, Fumiko, Nakamura, Tamaki, Kaneyasu, Hidenobu, Ohga, Shouichi, Yamazaki, Kazuko, Nozawa, Tomo, Kanetaka, Taichi, Ito, Shuichi, Yokota, Shumpei, McLellan, Kirsty, MacGregor, Ishbel, Martin, Neil, Davidson, Joyce, Hansmann, Sandra, Eikelberg, Andreas, Haug, Iris, Schuller, Sabrina, Benseler, Susanne M., Nazarova, Liliia S., Danilko, Kseniia V., Malievsky, Viktor A., Viktorova, Tatiana V., Mauro, Angela, Barnicoat, Angela, Hurst, Jane, Canham, Nathalie, Lacassagne, Sandrine, Wiener, Anastasia, Hügle, Boris, Denecke, Bernd, Costa-Filho, Ivan, Haas, Johannes Peter, Tenbrock, Klaus, Popp, David, Boltjes, Arjan, Rühle, Frank, Herresthal, Stefanie, van Wijk, Femke, Schultze, Joachim, Stoll, Monika, Klotz, Luisa, Vogl, Thomas, Roth, Johannes, Quesada-Masachs, Estefania, de la Sierra, Daniel Álvarez, Prat, Marina Garcia, Sánchez, Ana M. Marín, Borrell, Ricardo Pujol, Barril, Sara Marsal, Gallo, Mónica Martínez, Caballero, Consuelo Modesto, Chyzheuskaya, Iryna, Byelyaeva, Lyudmyla M., Filonovich, Rostislav M., Khrustaleva, Helena K., Zajtseva, Larisa I., Yuraga, Tamara M., Giner, Thomas, Hackl, Lukas, Albrecht, Julia, Würzner, Reinhard, Brunner, Juergen, Minute, Marta, Parentin, Fulvio, Nocerino, Agostino, Nørgaard, Mette, Alberdi-Saugstrup, Mikel, Zak, Marek S., Nielsen, Susan M., Nordal, Ellen, Müller, Klaus G., Avramovič, Mojca Zajc, Dolžan, Vita, Toplak, Nataša, Avčin, Tadej, Ruperto, N., Lovell, D. J., Wallace, C., Toth, M., Foeldvari, I., Bohnsack, J., Milojevic, D., Rabinovich, C., Kingsbury, D., Marzan, K., Quartier, P., Minden, K., Chalom, E., Horneff, G., Kuester, R. M., Dare, J., Heinrich, M., Kupper, H., Kalabic, J., Brunner, H. I., Burgos-Vargas, Ruben, Constantin, Tamas, Dehoorne, Joke, Stanevica, Valda, Kobusinska, Katarzyna, Zuber, Zbigniew, Mouy, Richard, Rumba-Rozenfelde, Ingrida, Job-Deslandre, Chantal, Pederson, Ronald, Bukowski, Jack, Hinnershitz, Tina, Vlahos, Bonnie, Keskitalo, Paula, Kangas, Salla, Vähäsalo, Paula, Valencia, Raul A. Chavez, Martino, David, Ponsonby, Anne-Louise, Chiaroni-Clarke, Rachel, Meyer, Braydon, Allen, Roger C., Akikusa, Jonathan D., Craig, Jeffrey M., Saffrey, Richard, Ellis, Justine A., Wallace, Carol, Uziel, Yosef, Sterba, Gary, Schneider, Rayfel, Russo, Ricardo, Ramanan, Athimalaipet V., Schmid, Jana Pachlopnik, Nichols, Kim E, Miettunen, Paivi, Kitoh, Toshiyuki, Ilowite, Norman T., Henter, Jan-Inge, Grom, Alexei A, Behrens, Edward M., Avcin, Tadej, Aricò, Maurizio, Grevich, Sriharsha, Lee, Peggy, Ringold, Sarah, Leroux, Brian, Leahey, Hannah, Yuasa, Megan, Foster, Jessica, Sokolove, Jeremy, Lahey, Lauren, Robinson, William, Newson, Joshua, Stevens, Anne, Shoop, Stephanie J. W., Verstappen, Suzanne M. M., Thomson, Wendy, McDonagh, Janet E., Beukelman, Timothy, Kimura, Yuki, Natter, Marc, Ilowite, Norm, Mieszkalski, Kelly, Burrell, Grendel, Best, Brian, Bristow, Helen, Carr, Shannon, Dennos, Anne, Kaufmann, Rachel, Schanberg, Laura, Simonini, Gabriele, Lancini, Francesca, Gerbaux, Margaux, Lê, Phu-Quoc, Goffin, Laurence, Badot, Valérie, La, Céline, Caspers, Laure, Willermain, François, Ferster, Alina, Ceci, Maria, Licciardi, Francesco, Turco, Marco, Santarelli, Francesca, Montin, Davide, Toppino, Claudia, Alizzi, Clotilde, Papia, Bruno, Vergara, Beatrice, Corpora, Umberto, Messina, Luca, Tsinti, Maria, Dermentzoglou, Vasiliko, Tziavas, Panagiotis, Perica, Marija, Bukovac, Lana Tambić, Çakan, Mustafa, Ayaz, Nuray Aktay, Keskindemirci, Gonca, Lang, Michael, Laing, Catherine, Benseler, Susanne, Gerschman, Tommy, Luca, Nadia, Schmeling, Heinrike, Dropol, Anastasia, Taiani, Jaymi, Johnson, Nicole, Rusted, Brian, Nalbanti, Panagiota, Pratsidou, Polyxeni, Pardalos, Grigoris, Tzimouli, Vasiliki, Taparkou, Anna, Stavrakidou, Maria, Papachristou, Fotios, Kanakoudi-Tsakalidou, Florence, Bale, Peter, Robinson, Emily, Palman, Jason, Ralph, Elizabeth, Gilmour, Kimberly, Heard, Clare, Wedderburn, Lucy R., Barrense-Dias, Yara, Gregory, Antonarakis, Amira, Dhouib, Paolo, Scolozzi, Sylviane, Hanquinet, Michaël, Hofer, Panko, Nataliya, Shokry, Salah, Rakovska, Liudmila, Pino, Sally, Diaz-Maldonado, Adriana, Guarnizo, Pilar, Torreggiani, Sofia, Cressoni, Paolo, Garagiola, Umberto, Di Landro, Giancarla, Farronato, Giampietro, Corona, Fabrizia, Bell, Samantha, Bhatti, Parveen, Nelson, Lee, Mueller, Beth A., Simon, T. A., Baheti, A., Ray, N., Guo, Z., Hazra, Anasuya, Stock, Thomas, Wang, Ronnie, Mebus, Charles, Alvey, Christine, Lamba, Manisha, Krishnaswami, Sriram, Conte, Umberto, Wang, Min, Kingsbury, Daniel, Koskova, Elena, Smolewska, Elzbieta, Vehe, Richard K., Lovell, Daniel, Kubota, Tomohiro, Yasumura, Junko, Kizawa, Toshitaka, Yashiro, Masato, Yamatou, Tsuyoshi, Yamasaki, Yuichi, Takei, Syuji, Kawano, Yoshifumi, Nykvist, Ulrika Järpemo, Magnusson, Bo, Wicksell, Rikard, Palmblad, Karin, Olsson, Gunnar L., Modaressi, Mohammadreza, Moradinejad, Mohammad-Hassan, Seraya, Valentina, Vitebskaya, Alisa, Moshe, Veronica, Amarilyo, Gil, Harel, Liora, Hashkes, Phillip J, Mendelson, Amir, Rabinowicz, Noa, Reis, Yonit, Dāvidsone, Zane, Lazareva, Arina, Šantere, Ruta, Bērziņa, Dace, Staņēviča, Valda, Varnier, Giulia Camilla, Maillard, Susan, Ferrari, Cristina, Zaffarano, Silvia, Wienke, Judith, Enders, Felicitas Bellutti, van den Hoogen, Lucas L., Mertens, Jorre S., Radstake, Timothy R., Hotten, Henny G., Fritsch, Ruth, Wedderburn, Lucy, Nistala, Kiran, Prakken, Berent, van Royen-Kerkhof, Annet, Alhemairi, Mohammad, Muzaffer, Mohammed, Van Dijkhuizen, Pieter, Deakin, Claire T., Simou, Stefania, De Iorio, Maria, Wu, Qiong, Amin, Tania, Dossetter, Lee, Campanilho-Marques, Raquel, Deakin, Claire, Pilkington, Clarissa A., Rosina, Silvia, Soponkanaporn, Sirisucha, Arıcı, Zehra S., Tuğcu, Gökçen D., Batu, Ezgi D., Sönmez, Hafize E., Doğru-Ersöz, Deniz, Talim, Beril, Kiper, Nural, Özen, Seza, Solyom, Alexander, Batu, Ezgi, Mitchell, John, Kariminejad, Ariana, Hadipour, Fatemeh, Hadipour, Zahra, Torcoletti, Marta, Agostoni, Carlo, Di Rocco, Maja, Tanpaiboon, Pranoot, Superti-Furga, Andrea, Bonafé, Luisa, Arslan, Nur, Guelbert, Norberto, Ehlert, Karoline, Grigelioniene, Giedre, Puri, Ratna, Schuchman, Edward, Gomez, Pilar, Gonzalez, Tatiana, Yepez, Ricardo, Vargas, Camilo, Fernanda, Falcini, Lepri, Gemma, Ferrari, Alessandra, Matucci-Cerinic, Marco, Meini, Antonella, Moneta, Gian Marco, Marasco, Emiliano, Nicolai, Rebecca, Bracci-Laudiero, Luisa, Kopchak, Olga, Mushkin, Alexander, Maletin, Alexey, Mosquera, Catalina, Amorim, Rita A., Molina, Juliana, Moreira, Gustavo, Santos, Flávia H., Fraga, Melissa, Keppeke, Livia, Silva, Vanessa M., Hirotsu, Camila, Tufik, Sergio, Terreri, Maria Teresa, Braga, Vinícius L., Fonseca, Maria Beatriz, Schinzel, Vania, Terreri, Maria Teresa R., Jorge, Liliana, Guerra, Liana, Junior, Edson Amaro, Castiglione, Maria Cristina, Tricarico, Alessandra, Boulter, Emily, Schultz, Andre, Murray, Kevin, Falcini, Fernanda, Stagi, Stefano, Bellucci, Eleonora, Grein, Ingrid H. R., Pileggi, Gecilmara, Pinto, Natália B. F., de Oliveira, Aline L., Belyaeva, Lyudmila, Filonovich, Rostislav, Khrustaleva, Helena, Zajtseva, Larisa, Ilisson, Jaanika, Pruunsild, Chris, Gilliaux, Olivier, Corazza, Francis, Lelubre, Christophe, Morel, Zoilo, C, Claudia Saad-Magalhães, Lira, Luis, Ladino, Mabel, Eraso, Ruth, Arroyo, Ivonne, Silva, Clovis, and Rose, Carlos

Published
2017
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27. Juvenile gout in methylmalonic acidemia.

Author

Charuvanij, Sirirat, Pattaragarn, Anirut, Wisuthsarewong, Wanee, and Vatanavicharn, Nithiwat

Subjects
*GOUT diagnosis, *INBORN errors of metabolism, *COLCHICINE, *KIDNEY diseases, *ALLOPURINOL, *CHILDREN, *GENETICS
Abstract

Methylmalonic acidemia (MMA) is an inborn error of metabolism caused by either deficiency of the enzyme methylmalonyl-CoA mutase or a defect in adenosyl-cobalamin synthesis. Chronic kidney disease is its common complication and, in combination with persistent acidosis, leads to hyperuricemia. Symptomatic hyperuricemia or gout, however, has not been reported in MMA. We herein report two pediatric cases of MMA caused by MMAB mutations (cblB defect) with renal tubular acidosis, chronic kidney disease, hyperuricemia, and gout. The clinical findings of gout in these cases included recurrent first metatarsophalangeal arthritis and/or tophi. The patients responded to treatment with colchicine and allopurinol. [ABSTRACT FROM AUTHOR]

Published
2016
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28. Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble.

Author

Tanboon, Jantima, Sanmaneechai, Oranee, Charuvanij, Sirirat, Sangruchi, Tumtip, Galindo-Feria, Angeles S., Lundberg, Ingrid E., Ohnuki, Yuko, Shiina, Takashi, Suzuki, Shigeaki, and Nishino, Ichizo

Subjects
*NEMALINE myopathy, *ARTHROGRYPOSIS, *MUSCLE diseases, *LEFT ventricular hypertrophy, *MUSCLE weakness, *MUSCULAR dystrophy, *CREATINE kinase
Abstract

• We report anti-HMGCR antibody positivity with reducing body myopathy in a 6-year-old boy. • Unusual clinical and pathological features could be a mixed result of two entities. • Comprehensive workup lead to the "possible double-trouble" diagnosis. Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy is less common in children but has been associated with more favorable prognosis than adult patients after immunotherapies. We report anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positivity in a 6-year-old boy with progressive muscle weakness, scoliosis, spinal rigidity, multiple joint contractures, mild left ventricular hypertrophy, and elevated serum creatine kinase. In contrast to most of previously reported pediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, he showed little response to immunotherapies. Muscle biopsy contained changes suggestive of myofiber necrosis and regeneration and reducing bodies. The diagnosis of reducing body myopathy was later confirmed by reported c.368A> G (p.His123Arg) mutation in the FHL1 gene. Although the level of association between these two conditions is still inconclusive, this is the first report of concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody with reducing body myopathy emphasizing the possibility of co-occurrence of immune mediated necrotizing myopathy and muscular dystrophy and importance of comprehensive diagnostic investigations in unusual cases. [ABSTRACT FROM AUTHOR]

Published
2019
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