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What is In Dent's disease, which of the following is seen on laboratory evaluation ? and explain in detail?
Ans. is 'a' i.e., Hypercalciuria Dent's disease o Dent disease is a chronic kidney disease that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time. o The most frequent sign of Dent disease is the presence of an abnormally large amount of proteins in urine (tubular proteinuria). o Other common signs of the disorder include:- - Excess calcium in the urine (hypercalciuria) - Calcium deposits in the kidney (nephrocalcinosis) and - Kidney stones (nephrolithiasis) o Kidney stones can cause abdominal pain and blood in the urine (hematuria). o Patient presents with end stage renal disease in early complications such as rickets or osteomalacia may occur, o The disease is caused by a mutation in either CLCN5 (Dent disease I) or OCRJL (Dent disease 2). o The phenotype of Dent's disease is explained by the predominant expression of CLC-5 in the proximal tubule segments of the kidney. o Diagnosis is based on the presence of all of the following three criteria Low molecular weight proteinuria. Hypercalciuria and At least one of the following Nephrocalcinosis Kidney stones Hematuria Hypophosphatemia Renal insufficiency