Dent disease is due to defect of?
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules of the kidney. It is one cause of Fanconi syndrome and is characterized by tubular proteinuria, excess calcium in the urine, the formation of calcium kidney stones, nephrocalcinosis, and chronic kidney failure. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antipoer, and 15% of patients have mutations in the OCRL1 gene (Dent 2). Dent's disease often produces the following signs and symptoms: Rickets Extreme thirst combined with dehydration Nephrolithiasis (kidney stones) Hypercalciuria (high urine calcium - >300 mg/d or >4 mg/kg per d) with normal levels blood/serum calcium) Aminoaciduria (amino acids in urine) Phosphaturia (phosphate in urine) Diagnosis is based on a genetic study of CNCL5 gene Ref: wikipedia
Sodium channel
Potassium channel
Chloride channel
Calcium channel
Nervous system