Congenital Kidney Conditions Overview

Congenital Kidney Conditions

• Horseshoe Kidney: Conjoined kidneys, typically connected at the lower pole. The most common congenital renal anomaly. One kidney is positioned abnormally in the lower abdomen, often caught on the inferior mesenteric artery during ascent from the pelvis.

• Renal Agenesis: Absence of one or both kidneys.

  • Unilateral: The remaining kidney enlarges, increasing the risk of kidney failure in the future.
  • Bilateral: This condition leads to oligohydramnios (low amniotic fluid), characteristics like a flat face and low-set ears, and developmental issues in the extremities (Potter sequence). It's usually incompatible with life.

• Dysplastic Kidney: A non-inherited, congenital malformation of kidney tissue. Usually contains cysts and abnormal tissue like cartilage. Most cases are unilateral, and bilateral cases can be mistaken for inherited polycystic kidney disease.

• Polycystic Kidney Disease (PKD): An inherited condition that results in enlarged kidneys with cysts in the renal cortex and medulla.

  • Recessive: Diagnosed in infancy, leading to worsening kidney failure and high blood pressure. Newborns may exhibit Potter Sequence. Associated with congenital hepatic fibrosis, a condition that leads to portal hypertension, and hepatic cysts.
  • Dominant: A different form, present in young adults, characterized by hypertension (due to increased renin), blood in the urine (hematuria), and worsening kidney failure over time. This form is linked to mutations in the APKD1 or APKD2 genes, and associated with berry aneurisms, hepatic cysts, and mitral valve prolapse.

Medullary Cystic Kidney Disease

• An inherited (autosomal dominant) condition that leads to cysts in the medullary collecting ducts.
• The condition results in shrunken kidneys and worsening kidney failure, caused by parenchymal fibrosis.