Context: Biallelic pathogenic variants in the NEUROG3 gene cause malabsorptive diarrhea, insulin-dependent diabetes mellitus (IDDM), and rarely hypogonadotropic hypogonadism. With only 17 reported cases, the clinical and mutational spectra of this disease are far from complete.
Objective: To identify the underlying genetic etiology in 3 unrelated Thai patients who presented with early-onset malabsorptive diarrhea, endocrine abnormalities, and renal defects and to determine the pathogenicity of the newly identified pathogenic variants using luciferase reporter assays and western blot.
Pediatr Neurol
September 2022
Background: Vitamin C deficiency is common in chronic kidney disease (CKD) due to losses through dialysis and dietary intake below requirement. We investigated prevalence of vitamin C deficiency and impact of vitamin C treatment in deficient/insufficient patients.
Methods: A prospective cohort study in patients aged 1-18 years with CKD stages 4 and 5D collected demographic data including underlying disease, treatment, and anthropometric assessment.
Background: Cyanotic nephropathy (CN), seen in 30-50% of patients with congenital cyanotic heart disease (CCHD), affects both tubular and glomerular function, resulting in proteinuria and azotemia. Microalbuminuria is an early marker for glomerular damage and an independent predictor of progressive renal disease.
Methods: A cross-sectional study was conducted.
Background: Due to the relative infrequency of lupus membranous nephritis (LMN) compared to other types of lupus nephritis (LN) in pediatric patients, the current literature on pediatric LMN is limited. The knowledge regarding clinical manifestations, outcomes and infectious complications are mainly based on studies in the adult population. Similar to disease expression in SLE, the renal manifestations of LMN are affected by environmental factors and vary among racial and ethnic groups.
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