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1. Diabetic ketoacidosis at the onset of disease during a national awareness campaign: A 2-year observational study in children aged 0-18 years

Author

Rabbone I., Maltoni G., Tinti D., Zucchini S., Cherubini V., Bonfanti R., Scaramuzza A., Lera R., Bobbio A., Piccinno E., Reinstadler P., Felappi B., Prandi E., Gallo F., Frongia AP., Ripoli C., Lo Presti D., Tomaselli L., Cardinale G., Stamati FA., Citriniti F., Suprani T., Graziani V., De Berardinis F., Zampolli M., De Marco R., Cavalli C., Lazzaro N., De Donno V., Toni S., Piccini B., Lenzi L., Mainetti B., Coccioli MS., d'Annunzio G., Minuto N., Aloe S., Lucchesi D., Cirillo S., Sordelli M., Del Vecchio F., Salzano LG., Meschi F., Iughetti L., Predieri B., Franzese A., Mozzillo Enza., Iafusco D., Cadario F., Savastio S., Piredda G., Cardella F., Iovane B., Calcaterra V., Berioli MG., Biagioni M., Randazzo E., Patera I., Schiaffini R., Rutigliano I., Lasagni A., Innaurato S., Gaiero A., Fichera G., Trada M., Guerraggio L., Cauvin V., Franceschi R., Tornese G., Salvatoni A., Marigliano M., Sabbion A., Maffeis C., Arnaldi C., Rabbone, I., Maltoni, G., Tinti, D., Zucchini, S., Cherubini, V., Bonfanti, R., Scaramuzza, A., Lera, R., Bobbio, A., Piccinno, E., Reinstadler, P., Felappi, B., Prandi, E., Gallo, F., Frongia, Ap., Ripoli, C., Lo Presti, D., Tomaselli, L., Cardinale, G., Stamati, Fa., Citriniti, F., Suprani, T., Graziani, V., De Berardinis, F., Zampolli, M., De Marco, R., Cavalli, C., Lazzaro, N., De Donno, V., Toni, S., Piccini, B., Lenzi, L., Mainetti, B., Coccioli, Ms., D'Annunzio, G., Minuto, N., Aloe, S., Lucchesi, D., Cirillo, S., Sordelli, M., Del Vecchio, F., Salzano, Lg., Meschi, F., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, Enza., Iafusco, D., Cadario, F., Savastio, S., Piredda, G., Cardella, F., Iovane, B., Calcaterra, V., Berioli, Mg., Biagioni, M., Randazzo, E., Patera, I., Schiaffini, R., Rutigliano, I., Lasagni, A., Innaurato, S., Gaiero, A., Fichera, G., Trada, M., Guerraggio, L., Cauvin, V., Franceschi, R., Tornese, G., Salvatoni, A., Marigliano, M., Sabbion, A., Maffeis, C., Arnaldi, C., Rabbone, Ivana, Maltoni, Giulio, Tinti, Davide, Zucchini, Stefano, Cherubini, Valentino, Bonfanti, Riccardo, Scaramuzza, Andrea, Lera, Riccardo, Bobbio, Adriana, Piccinno, Elvira, Reinstadler, Petra, Felappi, Barbara, Prandi, Elena, Gallo, Francesco, Frongia, Anna Paola, Ripoli, Carlo, Lo Presti, Donatella, Tomaselli, Letizia, Cardinale, Giuliana, Stamati, Filomena Andreina, Citriniti, Felice, Suprani, Tosca, Graziani, Vanna, De Berardinis, Fiorella, Zampolli, Maria, De Marco, Rosaria, Cavalli, Claudio, Lazzaro, Nicola, De Donno, Valeria, Toni, Sonia, Piccini, Barbara, Lenzi, Lorenzo, Mainetti, Benedetta, Coccioli, Maria Susanna, D’Annunzio, Giuseppe, Minuto, Nicola, Aloe, Monica, Lucchesi, Sonia, Cirillo, Dante, Sordelli, Silvia, Delvecchio, Maurizio, Lombardo, Fortunato, Salzano, Giusy, Meschi, Franco, Iughetti, Lorenzo, Predieri, Barbara, Franzese, Adriana, Mozzillo, Enza, Iafusco, Dario, Cadario, Francesco, Savastio, Silvia, Cardella, Francesca, Iovane, Brunella, Calcaterra, Valeria, Berioli, Maria Giulia, Biagioni, Martina, Randazzo, Emioli, Patera, Ippolita Patrizia, Schiaffini, Riccardo, Rutigliano, Irene, Lasagni, Anna, Innaurato, Silvia, Gaiero, Alberto, Fichera, Grazziella, Trada, Michela, Guerraggio, Lucia, Cauvin, Vittoria, Franceschi, Roberto, Tornese, Gianluca, Salvatoni, Alessandro, Marigliano, Marco, Sabbion, Alberto, Maffeis, Claudio, and Arnaldi, Claudia

Subjects
Blood Glucose, Male, medicine.medical_specialty, Pediatrics, endocrine system diseases, Diabetic ketoacidosis, Adolescent, 030209 endocrinology & metabolism, Disease, 03 medical and health sciences, 0302 clinical medicine, diabetic ketoacidosis, Patient Education as Topic, Diabetes mellitus, Epidemiology, Medicine, Humans, 030212 general & internal medicine, Prospective Studies, Child, Type 1 diabetes, diabetes, business.industry, Incidence (epidemiology), Incidence, epidemiology, Infant, Newborn, diabetic ketoacidosi, nutritional and metabolic diseases, Infant, medicine.disease, Diabetes Mellitus, Type 1, Italy, diabete, Child, Preschool, Pediatrics, Perinatology and Child Health, Observational study, Female, business, Prevention campaign
Abstract

ObjectiveAfter a previous survey on the incidence of diabetic ketoacidosis (DKA) at onset of type 1 diabetes in children in 2013–2014 in Italy, we aimed to verify a possible decline in the incidence of DKA at onset during a national prevention campaign.DesignProspective observational study.SettingMulticentre study throughout Italy.InterventionNational awareness campaign started in November 2015 and held until December 2017.PatientsDuring 2016 and 2017 we collected data on all patients aged 0–18 years with new-onset diabetes.Main outcome measuresDKA (pH ResultsRecords (n=2361) of children with newly diagnosed type 1 diabetes were collected from 58 out of 68 (85.3%) centres of the original survey participants and 100% of the previously surveyed tertiary centres. Overall, DKA was observed in 1124 patients, with an increased rate when compared with the previous survey (47.6% vs 38.5%, p=0.002), and severe DKA in 15.3%. In children below 6 years, DKA was observed in 323 out of 617 (52.5%) and severe DKA in 16.7%; in this age group, occurrence of DKA reduced by 21.3% (p=0.009). DKA treatment according to the ISPED guidelines was adopted in 95% of the centres, with a 27% improvement (p=0.025).ConclusionsDuring a 2-year awareness campaign, DKA at onset of diabetes in children and adolescents 0–18 years is still common and increased when compared with the 2013–2014 survey.

Published
2020

2. The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Author

Minari R, Vottero A, Azzolini S, Barbaro D, Bindi G, Bozzola M, Burrai C, Cardinale GM, Cioff D, Cisternino M, Coccioli MS, Delvecchio M, Fabbrizi E, Ferrari M, Gallarotti F, Gallo F, Ghizzoni L, Mainetti B, Montinaro R., MAGGIO, Maria Cristina, Minari R, Vottero A, Azzolini S, Barbaro D, Bindi G, Bozzola M, Burrai C, Cardinale GM, Cioff D, Cisternino M, Coccioli MS, Delvecchio M, Fabbrizi E, Ferrari M, Gallarotti F, Gallo F, Ghizzoni L, Maggio MC, Mainetti B, and Montinaro R

Subjects
Settore MED/38 - Pediatria Generale E Specialistica, SHOX Gene, Idiopathic Short Stature
Published
2014

3. Severe hypoglycemia and ketoacidosis over one year in Italian pediatric population with type 1 diabetes mellitus: a multicenter retrospective observational study

Author

Cherubini, V, Pintaudi, B, Rossi, Mc, Lucisano, G, Pellegrini, F, Chiumello, G, Frongia, Ap, Monciotti, C, Patera, Ip, Toni, S, Zucchini, S, Nicolucci, A, Lera, R, Iannilli, A, Giorgetti, C, Cesaretti, A, Paparusso, Am, Alessandrelli, Mc, Scipione, M, Balsamo, C, Gallo, F, Lo Presti, D, Passanisi, S, Tumini, S, Cipriano, P, Lazzaro, N, Vergerio, A, Banin, P, Lenzi, L, Coccioli, Ms, D'Annunzio, G, Bruzzese, M, Lombardo, F, Salzano, G, Bonfanti, R, Frontino, G, Battaglino, R, Iughetti, Lorenzo, Predieri, Barbara, Cadario, F, Savastio, S, Zabadneh, N, Zanella, C, Mozzo, E, Tiozzo, S, Benevento, D, Calcaterra, V, Larizza, D, Delvecchio, M, Trada, M, Rabbone, I, Sicignano, S, Cauvin, V, Franceschi, R, Gargantini, L, Pennati, C, Bianchi, G, Salvatoni, A, Maffeis, C, Marigliano, M, Sabbion, A, Arnaldi, C, Tosini, D, Tossi, Mc, Valentini, M, D'Alonzo, D, Pirozzoli, C, Di Nardo, B, Memmo, R, and Cianci, A.

Subjects
Male, medicine.medical_specialty, Children and adolescents, endocrine system diseases, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Insulin, Isophane, Medicine (miscellaneous), NPH insulin, TYPE I (INSULIN-DEPENDENT) DIABETES MELLITUS, Internal medicine, Diabetes mellitus, medicine, Humans, Hypoglycemic Agents, Insulin, Child, Retrospective Studies, Glycated Hemoglobin, Type 1 diabetes, Severe hypoglycemia, Nutrition and Dietetics, business.industry, Incidence (epidemiology), Incidence, Infant, Retrospective cohort study, Diabetes ketoacidosis, Ketosis, medicine.disease, Hypoglycemia, Ketoacidosis, Surgery, Diabetes Mellitus, Type 1, Italy, Child, Preschool, Regular insulin, Female, Cardiology and Cardiovascular Medicine, business
Abstract

Background and aims: Evaluation of incidence and correlates of severe hypoglycemia (SH) and diabetes ketoacidosis (DKA) in children and adolescents with T1DM. Methods and results: Retrospective study conducted in 29 diabetes centers from November 2011 to April 2012. The incidence of SH and DKA episodes and their correlates were assessed through a questionnaire administered to parents of patients aged 0e18 years. Incidence rates and incident rate ratios (IRRs) were estimated through multivariate Poisson regression analysis and multilevel analysis. Overall, 2025 patients were included (age 12.4 � 3.8 years; 53% males; diabetes dura- tion 5.6 � 3.5 years; HbA1c 7.9 � 1.1%). The incidence of SH and DKA were of 7.7 and 2.4 events/ 100 py, respectively. The risk of SH was higher in females (IRR Z 1.44; 95%CI 1.04e1.99), in pa- tients using rapid acting analogues as compared to regular insulin (IRR Z 1.48; 95%CI 0.97e2.26) and lower for patients using long acting analogues as compared to NPH insulin (IRR Z 0.40; 95% CI 0.19e0.85). No correlations were found between SH and HbA1c levels. The risk of DKA was higher in patients using rapid acting analogues (IRR Z 4.25; 95%CI 1.01e17.86) and increased with insulin units needed (IRR Z 7.66; 95%CI 2.83e20.74) and HbA1c levels (IRR Z 1.63; 95% CI 1.36e1.95). Mother' sa ge was inversely associated with the risk of both SH (IRRZ 0.95; 95%CI 0.92e0.98) and DKA (IRR Z 0.94; 95%CI 0.88e0.99). When accounting for center effect, the risk of SH associated with the use of rapid acting insulin analogues was attenuated (IRR Z 1.48; 95%CI 0.97e2.26); 33% and 16% of the residual variance in SH and DKA risk was ex- plained by center effect. Conclusion: The risk of SH and DKA is mainly associated with treatment modalities and strongly depends on the practice of specialist centers.

Published
2014

4. Epidemiology of diabetic ketoacidosis in Italy

Author

Cherubini, V, Gesuita, R, Sternardi, S, Ferrito, L, Lenzi, L, Iannilli, A, Piccini, B, Skrami, E, Nicolucci, A, Pintaudi, B, Toni, S, Lera, R, De Luna, L, Kienberger, B, Gualtieri, A, Zecchino, C, Piccino, E, Ortolani, F, Zucchini, S, Maltoni, G, Pasquino, B, Reinstadler, P, Prandi, E, Zattoni, V, Gallo, F, Morganti, G, Guerraggio, L, Ripoli, C, Frongia, M, Pusceddu, P, La Loggia, A, Scanu, P, Cardinale, G, Ponzi, G, Tomaselli, L, G, Rapisarda, V, Citriniti, F, Soprani, T, Tumini, S, Lazzaro, N, De Donno, V, Banin, P, Mainetti, B, Coccioli, Ms, D'Annunzio, G, Minuto, N, Montani, E, Maccioni, R, Marongiu, U, Beccaria, L, Bruzzese, M, Mammì, F, Pardi, D, Lombardo, F, Ventrici, C, Scaramazza, A, Ferrari, M, Bonfanti, R, Rigamonti, A, Iughetti, L, Predieri, B, Iafusco, D, Confetto, S, Zanfardino, A, Prisco, F, Franzese, A, De Nitto, E, Cadario, F, Milia, A, Piredda, G, Mereu, L, Soro, M, Correddu, A, Pipia, A, Monciotti, C, Cardella, F, De Berardinis, F, Santoro, G, Chiari, G, Berioli, M, Federico, G, Zanette, G, Marsciani, A, Pedini, A, Patera, I, P, Schiaffini, R, Bitti, M, Lidano, R, Pietrosanti, S, Delvecchio, M, Trada, M, Marinaro, A, Meloni, G, Galero, A, Fichera, G, Bulciolu, P, Rabbone, I, Ignaccolo, G, Cauvin, V, Franceschi, R, Faleschini, E, Tornese, G, Salvatoni, Alessandro, Cardani, R, Maffeis, C, Marigliano, M, Sabbion, A, and Arnaldi, C.

Published
2014

5. Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)

Author

Pinelli, M, Acquaviva, F, Barbetti, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, D, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Diabetology, Biagioni, M, Carloni, I, Cester, Am, Cherubini, V, Giorgetti, C, Iannilli, A, Bruzzese, M, Mammì, F, Guasti, M, Lenzi, L, Pepe, R, Piccini, B, Benelli, M, Cadario, F, Calcaterra, V, Cerutti, F, Sicignano, S, Mammì, C, Lazzaro, N, Comberiati, P, Scaramuzza, A, Zuccotti, G, Redaelli, F, Gallo, F, Cappa, M, Patera, P, Schiaffini, R, Cardella, F, Salvo, C, De Marco, R, Chessa, M, Frongia, P, Ricciardi, Mr, Ripoli, C, Zedda, Ma, Citriniti, F, Chiarelli, F, Tumini, S, Coccioli, Ms, De Berardinis, F, Santoro, E, DE LUCA, Filippo, Lombardo, Fortunato, Salzano, Giuseppina, Felappi, B, Prandi, E, Frezza, E, Piccinno, E, Torelli, C, Zecchino, C, Galderisi, A, Monciotti, C, Ingletto, D, Kaufmann, P, Pasquino, B, Lera, R, Lucchesi, S, Perrotta, A, Salardi, S, Scipioni, M, Luceri, S, Stamati, F, Pianese, L, Piceno, A, Tomaselli, L, Vergerio, A, Casaburo, F, Cocca, A, Confetto, S, Forgione, E, Pelliccia, C, Picariello, S, Pisani, F, Piscopo, A, Villano, P, Zanfardino, A, Buono, P, Franzese, A, Nugnes, R, Valerio, G, Maffeis, C, Marigliano, M, Chiari, G, Iovene, B, Vanelli, M., Pinelli, Michele, Acquaviva, Fabio, Barbetti, F, Caredda, E, Cocozza, Sergio, Delvecchio, M, Mozzillo, Enza, Pirozzi, Daniele, Prisco, F, Rabbone, I, Sacchetti, Lucia, Tinto, Nadia, Toni, S, Zucchini, S, and Iafusco, D.

Subjects
Genetics and Molecular Biology (all), Pediatrics, medicine.medical_specialty, Science, Cost-Benefit Analysis, Decision tree, Medicine (all), Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Biochemistry, Maturity onset diabetes of the young, Settore MED/13 - Endocrinologia, Quality of life, Surveys and Questionnaires, Glucokinase, medicine, Humans, Genetic Testing, Prospective Studies, Age of Onset, Prospective cohort study, Child, Wasting, Children, Genetic testing, Retrospective Studies, Glycated Hemoglobin, Multidisciplinary, MODY2, medicine.diagnostic_test, business.industry, Decision Trees, Retrospective cohort study, medicine.disease, Test (assessment), Diabetes Mellitus, Type 2, Italy, Child, Preschool, Mutation, Quality of Life, Medicine, Female, medicine.symptom, business, gene testing, Research Article
Abstract

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5-1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary "yes or no" questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients' quality of life and savings for the health care system of about 9 million euros per year.

Published
2012

6. Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital

Author

Maurizio, Delvecchio, Ornella, Ludovico, Claudia, Menzaghi, Rosa, Di Paola, Leopoldo, Zelante, Antonella, Marucci, Valeria, Grasso, Vincenzo, Trischitta, Massimo, Carella, Fabrizio, Barbetti, Francesco, Gallo, Maria Susanna, Coccioli, Clara, Zecchino, Maria Felicia, Faienza, Giuliana, Cardinale, Adriana, Franzese, Enza, Mozzillo, Dario, Iafusco, Angela, Zanfardino, Delvecchio, M, Ludovico, O, Menzaghi, C, Di Paola, R, Zelante, L, Marucci, A, Grasso, V, Trischitta, V, Carella, M, Barbetti, F, Gallo, F, Coccioli, M, Zecchino, C, Faienza, Mf, Cardinale, G, Franzese, A, Mozzillo, E, Iafusco, Dario, Zanfardino, A., Delvecchio, M., Ludovico, O., Menzaghi, C., Di Paola, R., Zelante, L., Marucci, A., Grasso, V., Trischitta, V., Carella, M., Barbetti, F., Gallo, F., Coccioli, Ms., Zecchino, C., Faienza, Mf., Cardinale, G., Franzese, A., Mozzillo, E., and Iafusco, D.

Subjects
Adult, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Basic Helix-Loop-Helix Transcription Factor, DNA Mutational Analysis, Polymorphism, Single Nucleotide, Settore MED/13 - Endocrinologia, DNA Mutational Analysi, Hospital, Gene Frequency, Polymorphism (computer science), Diabetes mellitus, Glucokinase, Internal Medicine, medicine, Basic Helix-Loop-Helix Transcription Factors, Prevalence, Humans, Hepatocyte Nuclear Factor 1-alpha, Child, Gene, Allele frequency, Hepatocyte Nuclear Factor 1-beta, Advanced and Specialized Nursing, Homeodomain Proteins, Type 1 diabetes, Molecular screening, business.industry, Medicine (all), Homeodomain Protein, medicine.disease, Hospitals, HNF1A, Pedigree, Diabetes Mellitus, Type 2, Hepatocyte Nuclear Factor 4, Italy, Trans-Activator, Mutation, Trans-Activators, business, Human
Abstract

Maturity-onset diabetes of the young (MODY; MIM# 606391) is a genetically and clinically heterogeneous form of diabetes, accounting for 1–2% of all diabetes cases (1). MODY is characterized by mild hyperglycemia or overt diabetes usually detected in three consecutive generations, with onset before the age of 25 years and absence of type 1 diabetes autoantibodies. Among the thirteen MODY genes identified, two subtypes, GCK -MODY and HNF1A -MODY, account for most of cases (1). The prevalence of GCK -MODY has been reported higher in Southern Europe (2), while HNF1A -MODY is the most common MODY subtype in Northern Europe (3). This difference might be attributable to the clinical setting in which genetic screening is performed, especially when pediatric and adult diabetes clinics are distinct entities. We addressed this issue by investigating MODY patients identified in the pediatric or in the adult diabetes clinics of the same research-based …

Published
2014

7. Nasal glucagon is safe and effective in children and adolescents with type 1 diabetes: A real-world prospective cohort study.

Author

Zucchini S, Ripoli C, Cherubini V, Coccioli MS, Delvecchio M, De Marco R, Franceschi R, Gallo F, Graziani V, Iafusco D, Innaurato S, Lasagni A, Lombardo F, Marigliano M, Monti S, Pascarella F, Pezzino G, Predieri B, Rabbone I, Schiaffini R, Trada M, Tumini S, and Scaramuzza A

Subjects
Child, Adolescent, Humans, Glucagon, Prospective Studies, Insulin, Blood Glucose, Diabetes Mellitus, Type 1 drug therapy, Hypoglycemia
Published
2024
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8. Mutations of RUNX1 in families with inherited thrombocytopenia.

Author

De Rocco D, Melazzini F, Marconi C, Pecci A, Bottega R, Gnan C, Palombo F, Giordano P, Coccioli MS, Glembotsky AC, Heller PG, Seri M, Savoia A, and Noris P

Subjects
Adult, Blood Platelets ultrastructure, Cell Size, Child, Child, Preschool, Core Binding Factor Alpha 2 Subunit chemistry, Female, Genes, Dominant, Heterozygote, Humans, Introns genetics, Leukemia, Myeloid, Acute genetics, Male, Middle Aged, Protein Domains genetics, RNA Splice Sites genetics, Sequence Deletion, Thrombocythemia, Essential blood, Thrombopoietin blood, Transcriptional Activation genetics, Young Adult, Core Binding Factor Alpha 2 Subunit genetics, Frameshift Mutation, Mutation, Missense, Thrombocythemia, Essential genetics
Published
2017
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9. Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

Author

Delvecchio M, Ludovico O, Menzaghi C, Di Paola R, Zelante L, Marucci A, Grasso V, Trischitta V, Carella M, Barbetti F, Gallo F, Coccioli MS, Zecchino C, Faienza MF, Cardinale G, Franzese A, Mozzillo E, Iafusco D, and Zanfardino A

Subjects
Adult, Basic Helix-Loop-Helix Transcription Factors genetics, Child, DNA Mutational Analysis, Diabetes Mellitus, Type 2 diagnosis, Diabetes Mellitus, Type 2 epidemiology, Gene Frequency, Glucokinase genetics, Hepatocyte Nuclear Factor 1-beta genetics, Hepatocyte Nuclear Factor 4 genetics, Homeodomain Proteins genetics, Hospitals, Humans, Italy epidemiology, Pedigree, Polymorphism, Single Nucleotide, Prevalence, Trans-Activators genetics, Diabetes Mellitus, Type 2 genetics, Hepatocyte Nuclear Factor 1-alpha genetics, Mutation
Published
2014
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10. Enuresis subtypes based on nocturnal hypercalciuria: a multicenter study.

Author

Aceto G, Penza R, Coccioli MS, Palumbo F, Cresta L, Cimador M, Chiozza ML, and Caione P

Subjects
Adolescent, Adrenocorticotropic Hormone blood, Child, Circadian Rhythm physiology, Creatinine blood, Deamino Arginine Vasopressin therapeutic use, Diagnosis, Differential, Electrolytes urine, Enuresis drug therapy, Enuresis urine, Female, Humans, Male, Polyuria urine, Vasopressins blood, Calcium urine, Enuresis classification, Polyuria diagnosis
Abstract

Purpose: Desmopressin may not be effective for nocturnal enuresis associated with polyuria and hypercalciuria. Nighttime hypercalciuria in an enuretic population from 5 centers and its correlation with nighttime polyuria were verified., Materials and Methods: A total of 450 enuretic patients (278 males, 172 females, mean age 9.7 years) were evaluated with 72-hour micturition charts, urinalysis, serum creatinine and osmolarity, diurnal and nocturnal electrolytes with fractional Na+ and K+ urinary excretion, and nocturnal (4 a.m.) plasma vasopressin. Creatinine electrolytes and osmolarity were measured in daytime (8 a.m. to 8 p.m.) and nighttime (8 p.m. to 8 a.m.) urine volumes. Patients were divided into group 1 with nocturnal polyuria and group 2 without nocturnal polyuria. Hypercalciuria was defined as urinary calcium-to-urinary creatinine ratio greater than 0.21. Statistic evaluation was performed using chi-square, Pearson correlation and ANOVA tests., Results: Nighttime polyuria was demonstrated in 292 bedwetters (65% group 1). Nocturnal hypercalciuria was present in 179 of the 450 children (39.7%), including 125 in group 1 (42.8%) and 54 in group 2 (34.2%), which was statistically significant (chi-square p = 0.008, Pearson correlation test r = 0.157). Daytime calciuria was not statistically modified in either group (group 1 p = 0.054, group 2 p = 0.56). Adrenocorticotropic hormone (ADH) was normal in 18.5% and low in 81.5% of enuretics with nocturnal hypercalciuria. ADH levels and nocturnal hypercalciuria significantly correlated (p = 0.003, r = 0.148). Conversely, the group 2 patients had normal ADH levels., Conclusions: Nocturnal hypercalciuria has a pivotal role in nocturnal enuresis, as it is significantly associated with low ADH levels and nocturnal polyuria. A new classification of nocturnal enuresis subtypes based on nighttime calciuria levels is mandatory to address treatment properly.

Published
2003
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