A Case of Dent Disease in Children Presenting with Massive Proteinuria / 罕见病研究

This article reported the diagnosis and treatment of a boy with Dent disease presenting with massive proteinuria.He was 3 years old and found to have massive proteinuria during routine physical examination without hypoalbuminemia, urine protein electrophoresis indicated mainly low molecular weight proteins, with hypercalciuria, and metabolic acidosis, no diabetes, no amino acid urine, and renal ultrasound showed no renal calcium deposition, He had no mental and physical developmental delay and no abnormal family history. Gene detection revealed one missense mutation in exon 15 of the OCRL1 gene, c.1477C > T (p.Arg493Trp). After the diagnosis was confirmed, restrictions in dietary intake of calcium, sodium, and oxalate was restricted and oral potassium citrate and hydrochlorothiazide was prescribed. During two months of follow-up, we observed a decrease in urinary calcium levels and normal renal function. This article aims to improve the understanding of this disease among physicians and provide reference for the diagnosis and treatment of this disease through typical case report and review of previous literatures.

Dent disease in childhood and associated clinical problems / 中华实用儿科临床杂志

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria (LMWP),hypercalciuria,nephrocalcinosis and/or nephrolithiasis,renal dysfunction and variable manifestations of other proximal tubule dysfunctions.The gene of Dent disease is now known that Dent disease Ⅰ is caused by mutations of the CLCN5 gene,coding for the ClC-5;and Dent disease Ⅱ by mutations of the OCRL gene,coding for the inositol polyphosphate 5-phosphatase OCRL-1.The pathological manifestations of Dent's kidney are often focal segmental sclerosis(FSGS),mesangial proliferative glomerulonephritis(MsPGN) and minimal change(MCD).Dent disease could progresses to chronic renal failure over 3 to 4 decades.As key point,the LMWP of Dent disease in childhood often express as nephrotic-range proteinuria with normal serum albumin,the differentiation with nephrotic syndrome in clinic.When a boy accompany with LMWP and hypercalciuria or nephrocalcinosis,he should be examined for CLCN5 and OCRL1 gene tests to avoid misdiagnosis and missed diagnosis of Dent disease.