Features
Incomplete proximal tubular dysfunction that affects handling of low molecular weight proteins, renal leak of phosphorus associated with hypercalciuria, glucosuria and hypouricemia.
Incomplete proximal tubular dysfunction that affects handling of low molecular weight proteins, renal leak of phosphorus associated with hypercalciuria, glucosuria and hypouricemia.
The most common symptoms are related to the expulsion of kidney stones such as back pain and gross hematuria. It occurs in childhood or adolescence, being men more severely affected, even with complete loss of kidney function. It may cause with musculoskeletal weakness, osteomalacia and polyuria.
Low molecular weight proteinuria, aminoaciduria, hypercalciuria, decreased serum parathyroid hormone (PTH), elevated serum levels of vitamin D and hyperphosphaturia.
Mutation in CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes. The inheritance pattern is X-linked recessive. For the genetic study it will be necessary samples of the index case and the parents.
Thiazide-type diuretics to increase calcium tubular reabsorption and high citrate diet. In case of osteomalacia the use of vitamin D and analogues may improve bone strength.
Adults may develop end-stage renal disease.
Urolithiasis, nephrocalcinosis, rickets and chronic renal failure.