Dent disease is an X-linked recessive renal tubular disorder characterized by proximal tubule dysfunction. Typical features include low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets, and chronic renal failure. We present a case of a 6-year-old boy with nephrotic proteinuria without hypoalbuminemia or edema. His renal biopsy revealed focal segmental glomerulosclerosis (FSGS), some of the glomeruli were globally sclerotic. Hypercalciuria was present intermittently and urine protein electrophoresis showed low molecular weight protein fraction of 50%. The next generation sequencing identified pathogenic variant in OCRL gene causing Dent disease type 2. We report an uncommon histologic finding of FSGS in Dent disease type 2 and highlight the importance of protein content examination and genetic analysis for the proper diagnosis in these complicated cases.
Based on our results, we suggest that PT in the SFK is correlated with height, weight and age of the patient. Consequently, measurements of PT may be used for monitoring the development of the healthy SFK and may contribute to a more accurate assessment of the severity of SFK anomalies.
Results Primarily we compared thickness of subcutaneous adipose tissue in girls-carriers of different genotypes in both groups. Girls with android obesity -carriers of AA genotype, thickness of subcutaneous adipose tissue in breast was 1.1 ±0.2cm; AG genotype -0.94±0.2cm; GG-genotype -0.93 ±0.2cm (p AA-AG; AA-GG =0.04). Metabolism parameters: insulin in carriers of AA genotype was 25.2±13.6; AG genotype -15.5±8.3; GG genotype -18.1±11.4 (p AA-AG =0.01); HOMA-IR, 6.1±3.6; 3.4±2.0; 4.4±3.3 (p AA-AG =0.01), respectively. Leptin without statistically significant differences was elevated in AA genotype carriers 67.1±25.1, in contrast to carriers of AG and GG genotypes: 54±26.6; 50.8±26.5, respectively. In girls with a gynoid obesity -carriers of AA genotype, thickness of subcutaneous adipose tissue in thighs was 2.0±0.2cm; AG genotype -2.1±0.3cm; GG-genotype -2.5±0.8cm (p AA-GG =0.03). Metabolism parameters: insulin in AA genotype carriers was 13.4±5.1; AG genotype -11.8±6.3; GG genotype -21±14.2 (p AA-GG =0.04; p AG-GG =0.02). Leptin 34.5±15.7; 32.2 ±16.3; 55.8±19.7 (p AA-GG =0.005; p AG-GG =0.003) respectively. HOMA-IR in carriers of AA genotype was 3.0±1.6; AG genotype -2.6±1.4; GG-genotype -4.5±3.2 (p AG-GG =0.04).Conclusions In girls of android morphotype, the carriage of A-allele is associated with carbohydrate and energy metabolism disorders, and is a risk marker of excess fat deposition in chest area. For a gynoid morphotype, G-allele is a risk marker and is associated with excessive fat deposition in the thighs, as well as with carbohydrate and energy metabolism disorders.
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