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, formation of calcium kidney stones, nephrocalcinosis, and chronic kidney failure. ""Dent's disease"" is often used to describe an entire group of familial disorders, including X-linked recessive nephrolithiasis with kidney failure, X-linked recessive hypophosphatemic rickets, and both Japanese and idiopathic low-molecular-weight proteinuria. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter, and 15% of patients have mutations in the OCRL1 gene. Dent's disease often produces the following signs and symptoms: 1.Extreme thirst combined with dehydration, which leads to frequent urination 2.Nephrolithiasis (kidney stones) 3.Hypercalciuria (high urine calcium - >300 mg/d or >4 mg/kg per d) with normal levels blood/serum calcium) 4.Aminoaciduria (amino acids in urine) 5.Phosphaturia (phosphate in urine) 6.Glycosuria (glucose in urine) 7.Kaliuresis (potassium in urine) 8.Hyperuricosuria (excessive amounts of uric acid in the urine) 9.Impaired urinary acidification 10.Rickets
HOW IS DENT DISEASE DIAGNOSED?
A urologist confirms dent's disease by diagnostic genetic testing and urinalysis for protein count
HOW IS DENT DISEASE TREATED?
The treatment will make use of Thiazide diuretics that will help in regulating the production and discharge of calcium in the patient’s urine.
DID YOU KNOW?
This disease happens as a result of genetic mutations in the body and is rather rare.