A 22 years males presented with fever hematuria and hypertension, IVP shows “spider leg” deformity. The diagnosis is
Correct Answer: Autosomal dominant polycystic kidney disease (ADPKD)
Description: i.e. (Autosomal dominant polycystic kidney disease (ADPKD)): (1797-1800 H17th; 907-8-CSDT 13th; 1287-Bailey & Love 25th) AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY (ADPKD) AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD) * Autosomal dominant * Most common age of presentation is in the 3rd or 4th decade Pathology * Both the kidney are grossly enlarged** * Multiple cysts cover the surface of the kidney * The cysts contains straw coloured fluid, that may become hemorrhagic * The cysts are distributed evenly throughout the cortex and the medulla Clinical features * Chronic flank pain * Acute pain (it indicates UTI) * Gross and microscopic hematuria * Nephrolithiasis (calcium oxalate and uric acid stones) * Hypertension is common * Progressive decline in renal function with approximately developing the end-stage renal disease by age of 60 years Extrarenal manifestation of ADPKD 1. Hepatic cyst - 50-70% of patients 2. Cysts are also seen in - Spleen - Pancreas - Ovary 3. Intracranial aneurysm - 5-10% of patients 4. Colonic diverticular (Most common extrarenal manifestation) 5. Mitral valve prolapse - 25% of patients Diagnosis by - USG Presence of at least 3-5 cysts is the standard criteria for ADPKD * Defective gene is the PKHD1 * PKHD1 gene codes for a protein fibrocystin (defective protein in ARPKD) * Majority of the patients during infancy (first year life) * May present later in life (in young adults) Pathology * Kidneys are enlarged (Invariably bilateral) * Numerous small cysts are present in kidney which gives it 'sponge-like appearance" * Cysts are primarily located in the distal tubule and collecting duct * Cysts may be discovered prenatally at birth or later in life Clinical presentation 1. Respiratory distress 2. Renal features - Hypertension, Renal failure, Enlarged kidney, Pyuria, Proteinuria 3. Hepatic Features - Hepatomegaly, features of portal hypertension - Esophageal varicies, Hypersplenism Associations i. Maternal oligohydramnios ii. Potter's syndrome iii. Pulmonary hypoplasia iv. Congenital hepatic fibrosis hepatic cysts v. Biliary duct atresia Radiographic Features: Spider leg appearance Polycystic kidney Sandy patches Schistosomiasis of bladder Cobra head appearance Ureterocele Drooping flower appearance Ectopic ureter Flower vase appearance Horseshoe kidney Soap bubble appearance Hydronephrosis Rim or crescent sign Hydronephrosis
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