Abstract
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.
Highlights
Dent disease is an X-linked recessive renal tubular disorder, which primarily affects males
Primary focal segmental glomerulosclerosis (FSGS) is usually found in patients with nephrotic syndrome (NS) and thought to be caused by a circulating permeability factor, which is responsible for increased leakiness of the glomerular filtration barrier, leading to proteinuria
The genetic diagnosis of X-linked recessive Dent disease type 2 provided information about the expected course and outcome of the disease for the patient and his family. This case report highlights the importance of a complex view of FSGS as a heterogeneous entity
Summary
Dent disease is an X-linked recessive renal tubular disorder, which primarily affects males. Dent disease is characterized by low molecular weight proteinuria, rickets, hypercalciuria, and nephrocalcinosis This disorder frequently leads to the formation of stones in the urinary tract and progressive chronic kidney disease (CKD) with some features of Fanconi syndrome [1]. The analysis revealed a known pathogenic variant c.[952C>T];[0], p.[(Arg318Cys)];[0] (rs137853263 in the dbSNP database) in the OCRL gene (NM_000276.3, NP_000267.2) This variant has been described in association with Dent disease type 2 and segregates in an X-linked recessive manner (cytogenetic band Xq26.1) with the disease. Parenteral rehydration lead promptly to complete resolution of AKI His renal function remained stable, his acid-base status was normal, the proteinuria persisted in nephrotic range, renal ultrasound showed adequate kidney growth without nephrocalcinosis or nephrolithiasis on last observation. The patient has been followed up in good clinical condition for 2 years in total
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