Congenital Diseases of Kidney and Urinary Calculi MCQs

This patient probably has medullary carcinoma of the thyroid , which is usually associated with phaeochromocytoma and hyperparathyroidism as part of the MEN-2A syndrome. Here, the serum TSH level is unchanged, while a 24-h urine test for 5-hydroxyindoleacetic acid is performed for the diagnosis of carcinoid syndrome. Phaeochromocytoma must be excluded before surgery. If present, the effect of catecholamines must be blocked prior to surgery. MEN-1 is associated with Pituitary adenoma, Parathyroid hyperplasia and Pancreatic tumours. MEN-2A (multiple endocrine neoplasia) is associated with Parathyroid hyperplasia, Medullary carcinoma thyroid and Pheochromocytoma MEN-2B is also associated with a marfanoid appearance, Mucosal neuromas whereas MEN-2a is not. Reference: Harrison's Principles of Internal Medicine 21 st edition Page:2953

Animal protein, oxalate, cystine and urate are all stone-forming substances, so high urinary levels promote stone formation. Low urinary citrate levels promote stone formation. Reference: Harrison's Principles of Internal medicine, 21 st ed, Ch: 318, Pg: 2369.

This patient has hereditary form of distal RTA with autosomal dominant inheritance. It occurs in adults. Autosomal recessive forms are diagnosed in infancy and childhood with or without deafness. Hyperkalemic RTA with a defect in voltage gradient is seen in patients with mild to moderate renal dysfunction. Type 4 RTA patients with aldosterone deficiency have mild renal impairment and can acidify their urine. Patients with incomplete RTA may have a combination of both proximal and distal RTA. They may present with acid urine, but the diagnosis is established only after an acid load. Proximal RTA patients present with severe hypokalemia, but nephrolithiasis is uncommon. Thus, options A, C, and D are incorrect. Reference: Harrisons Principles of Internal Medicine, 21 st Ed, Ch:55 Pg: 364

Explanation: In females, an ectopic ureter that opens below the sphincter (into the urethra or vagina) presents as continuous dribbling of urine despite normal voiding . This history is pathognomonic. Explanation of other options: Ureterocele (Option B): Causes recurrent UTIs and bladder outlet obstruction, not continuous dribbling. Congenital megaureter (Option C): Presents with hydronephrosis and infections, not continuous leakage. Vesicoureteric reflux (Option D): Causes recurrent UTIs and hydronephrosis, not continuous wetting.