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Key Clinical Message: Systemic Lupus Erythematosus (SLE) can have an insidious onset and a fatal prognosis in children. Patients presenting without typical signs of SLE should undergo further evaluation if they are not responding to the initial diagnosis and treatment. This is especially true for patients with rapidly progressing symptoms and deterioration in spite of treatment. Pediatric Systemic Lupus Erythematosus is a chronic autoimmune disorder with various organ involvement pulmonary involvement in the course of this disorder is a rare yet potentially life‐threatening complication. In this case report we highlight the findings of a 16‐year‐old girl acutely and initially presenting with cough and fever, eventually complicating to diffuse alveolar hemorrhage and gradual loss of consciousness. Although the patient was started on immunosuppressive treatment after the diagnosis of lupus, based on renal and hematological impairment, was made and initially responded, she eventually deteriorated. [ABSTRACT FROM AUTHOR]

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by a mutation in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. Objectives: This study aimed to identify the frequency and distribution of MEFV mutations in children with FMF in northeastern Iran and determine clinical examinations. Methods: Our study was a descriptive and analytical cross-sectional study conducted among 29 patients under the age of 18 who visited the pediatric rheumatologist between April 2014 and 2021. After clinical diagnosis, the patients underwent genetic evaluation. The mutations related to each patient were identified using Sanger sequencing of the entire MEFV gene sequence. The rest of the information was extracted from the checklist. Finally, the data were analyzed using SPSS v. 16. Results: Fever was the most common symptom, followed by abdominal pain. During the acute attack period, laboratory inflammatory factors increased in all patients. None of the patients had complications. There was no significant relationship between the demographic variables in the groups (benign, variant of uncertain significance [VUS], pathogen) except for the rate of hospitalization (P-value = 0.039). Moreover, 34.5% of the studied patients had pathogenic mutations. The most common mutation was E148Q, which was reported to be benign, followed by pathogenic mutations (M680I), with a frequency of 10.2%. Conclusions: The FMF is rare in Northeastern Iran, and the number of pathogenic mutations is lower compared to Northwest Iran and other studies. It is necessary to conduct a genetic examination and treatment of affected patients to control the course of the disease and its complications. [ABSTRACT FROM AUTHOR]

Introduction: Between 50-75% of children and adolescents with systemic lupus erythematosus (SLE) experience kidney involvement within the first year of diagnosis. The gold standard for diagnosing renal involvement in SLE is a renal biopsy. It is uncommon for SLE to cause isolated tubular involvement without any glomerular disease. Case Presentation: We report an adolescent girl with a known history of systemic lupus erythematosus who presented to the emergency department with progressively worsening weakness. The diagnosis revealed that she had distal renal tubular acidosis (RTA) without any glomerular disease. Her history of nephrocalcinosis and kidney stones on renal ultrasound is most consistent with distal renal tubular acidosis diagnosis. Conclusion: This case highlights the importance of considering renal tubular acidosis lupus patients who experience recurrent hypokalemic episodes. When a patient presents with a normal anion gap metabolic acidosis and hyperchloremia, without evidence of gastrointestinal HCO3 loss or absorption of exogenous acid, renal tubular acidosis (RTA) should be considered. [ABSTRACT FROM AUTHOR]

Background: The most common cause of coronary artery aneurysms in children is Kawasaki disease (KD). One of the risk ratings used to predict coronary artery aneurysms is the Harada score. This study aims to assess the negative predictive value (NPV) of Harada scoring in children with KD. Methods: This cross-sectional study was conducted in Mashhad (Iran) from January 2014 to December 2017. The Harada score was generated for each patient using demographic, laboratory, and echocardiography data retrieved from their medical records. The patients were divided into typical and atypical cases, and the sensitivity, specificity, positive predictive value (PPV), and NPV were calculated. The Chi square test, independent t test, Mann--Whitney U test, and Fisher exact test were used to analyze the data in SPSS software (version 23.0). P≤0.05 was considered statistically significant. Results: The study involved 168 individuals with a mean age of 29.91±19.52 months, including 103 typical and 65 atypical cases. Regarding cardiac complications, the atypical group had a significantly greater rate of coronary artery tapering (P=0.030). Out of 101 patients with cardiac complications, the Harada score was positive in 57 cases, while it was falsely negative in the remaining 44 patients. The calculated sensitivity, specificity, PPV, and NPV were 56.44%, 53.73%, 64.77%, and 45%, respectively. Conclusion: The findings revealed that the Harada scoring is ineffective in detecting coronary artery aneurysms or dilation in KD patients. [ABSTRACT FROM AUTHOR]