Congenital Kidney Diseases PDF

# CONGENITAL ## I. HORSESHOE KIDNEY - Conjoined kidneys usually connected at the lower pole. Most common congenital renal anomaly - Kidney is abnormally located in the lower abdomen. Horseshoe kidney gets caught on the inferior mesenteric artery root during its ascent from the pelvis to the abdomen...

# CONGENITAL ## I. HORSESHOE KIDNEY - Conjoined kidneys usually connected at the lower pole. Most common congenital renal anomaly - Kidney is abnormally located in the lower abdomen. Horseshoe kidney gets caught on the inferior mesenteric artery root during its ascent from the pelvis to the abdomen. ## II. RENAL AGENESIS - Absent kidney formation; may be unilateral or bilateral. - Unilateral agenesis leads to hypertrophy of the existing kidney; hyperfiltration increases risk of renal failure later in life. - Bilateral agenesis leads to oligohydramnios with lung hypoplasia, flat face with low set ears, and developmental defects of the extremities (Potter sequence); incompatible with life. ## III. DYSPLASTIC KIDNEY - Noninherited, congenital malformation of the renal parenchyma characterized by cysts and abnormal tissue (e.g., cartilage). - Usually unilateral; when bilateral, must be distinguished from inherited polycystic kidney disease. ## IV. POLYCYSTIC KIDNEY DISEASE (PKD) - Inherited defect leading to bilateral enlarged kidneys with cysts in the renal cortex and medulla. - Autosomal recessive form presents in infants as worsening renal failure and hypertension; newborns may present with Potter sequence. - Associated with congenital hepatic fibrosis (leads to portal hypertension) and hepatic cysts. - Autosomal dominant form presents in young adults as hypertension (due to increased renin), hematuria, and worsening renal failure. - Due to mutation in the *APKD1* or *APKD2* gene; cysts develop over time. - Associated with berry aneurysm, hepatic cysts, and mitral valve prolapse. ## V. MEDULLARY CYSTIC KIDNEY DISEASE - Inherited (autosomal dominant) defect leading to cysts in the medullary collecting ducts. - Parenchymal fibrosis results in shrunken kidneys and worsening renal failure.