Dent disease

Dent disease

(dent),
X-linked disease of proximal renal tubule chloride channel, with loss of calcium, phosphate, and low-molecular-weight protein, with frequent renal lithiasis. [MIM3000009]
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Some patients with Dent disease not only have LMW proteinuria, but albuminuria as well; occasionally, they may present with the nephrotic syndrome.
Effect of hydrochlorothiazide on urinary calcium excretion in Dent disease: An uncontrolled trial.
Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis.
The inherited rare kidney stone disorders studied by the RKSC include cystinuria, primary hyperoxaluria, adenine phosphoribosyltransferase (APRT) deficiency, and Dent disease (see Table 1).
All children with reduced kidney function with or without stone disease should undergo metabolic screening for cystinuria, primary hyperoxaluria, APRT deficiency, and Dent disease (Edvardsson et al., 2013).
Dent disease is a very rare X-linked disorder of proximal tubule dysfunction due to mutations in the CLCN5 chloride/protein exchanger gene (Dent disease 1, accounting for 60% of cases) or in the OCRL1 gene (Dent disease 2, accounting for 15% of cases) (Devuyst & Thakker, 2010; Edvardsson et al., 2013; Lieske et al., 2014).
Dent disease is characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure (Devuyst & Thakker, 2010; Lieske et al., 2014).
Dent disease generally presents in childhood or early adulthood, with males more severely affected than females.
Dent disease can be divided into type 1 and type 2.
Dent disease 2 (MIM 300555, or Lowe syndrome or oculocerebrorenal syndrome, MIM 309000) is also an X-linked recessive disease caused by mutations in the OCRL gene (MIM 300535) which encodes inositol polyphosphate-5-phosphatase (145).
Approximately 50-60% of cases with Dent disease have CLCN5 mutations, 15-20% have OCRL mutations and the remaining cases have no detectable mutation (140,146).