Renal Physiology · NEET PG Preparation Physiology
A patient presents with nephrogenic diabetes insipidus. At which specific nephron segment does the primary defect reside in forms associated with mut…
Practice question from Renal Physiology (NEET PG Preparation Physiology), with the correct answer and a step-by-step solution.
easy · MCQ · Q-E1FF42
A patient presents with nephrogenic diabetes insipidus. At which specific nephron segment does the primary defect reside in forms associated with mutations in the aquaporin-2 gene?
- A.Proximal convoluted tubule
- B.Thick ascending limb of loop of Henle
- C.Early distal convoluted tubule
- D.Collecting ductCorrect answer
Solution
Aquaporin-2 (AQP2) water channels are expressed in the principal cells of the collecting duct. They are inserted into the apical membrane in response to antidiuretic hormone (ADH/vasopressin). Mutations in the AQP2 gene lead to autosomal recessive nephrogenic diabetes insipidus, preventing water reabsorption in the collecting duct.
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