Dent's disease is a rare recessive X-linked renal tubular disorder characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, hypophosphatemia, rickets and slowly progressive renal failure.
Dent's disease is rare recessive X-linked renal tubular disorder manifesting by proximal tubular dysfunction of different grades, nephrolithiasis, nephrocalcinosis, rickets and slowly progressive renal failure.
Mutations in the CLCN5 gene encoding the electrogenic chloride/proton exchanger CIC-5 participating in the receptor-mediated endocytosis in the proximal tubule are a causative factor for Dent's disease of type 1.
Approximately, one-fourth of the patients with Dent's disease do not have mutations in any of the above-mentioned genes.
Due to the mode of inheritance Dent's disease affects primarily males.
The clinical features of Dent's disease are often subtle with the majority of patients being asymptomatic during infancy and early childhood.
Dent's disease is a proximal tubulus disease which is transmitted by x-linked recessive inheritance and which is characterized with low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis (8).
In this article, a male patient who was found have nephrolithiasis on ultrasonography (USG) performed because of urinary tract infection and was diagnosed with Dent's disease was presented to emphasize the importance of considering Dent's disease which is a rare disease in the differential diagnosis of nephrolithiasis.
Dent's disease was considered in the patient with the present findings.
In the follow-up, urinary [beta]2 mikroglobulin levels were found to be high and a diagnosis of Dent's disease was made clinically because of hypercalciuria, nephrolithiasis, LMW proteinuria, amino aciduria and a positive familial history.
The diagnosis of Dent's disease usually cannot be made in the early period during which the clinical and laboratory findings are absent in patients with nephrolithiasis/nephrocalcinosis.