Congenital Flashcards
What is the most common congenital renal anomaly? What is the finding? Where are the kidneys located and what causes this presentation?
Horseshoe kidney with conjoined kidneys usually located at the lower pole. 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.
What does unilateral renal agenesis lead to? What does it increase the risk of?
Hypertrophy of the existing kidney. Hyper filtration increases risk of renal failure later in life.
What does bilateral renal agenesis lead to? Is it compatible with life?
Leads to oligohydramnios with lung hypoplasia, flat face with low set ears, and developmental defects of the extremities (Potter sequence). Incompatible with life.
What is dysplastic kidney? What is its inheritance pattern? Is it uilateral or bilateral? What disease presents similarly?
Dysplastic kidney which is a NONINHERITED, congenital malformation of the renal parenchyma characterized by cysts and abnormal tissue. Usually unilateral. When bilateral has to be distinguished from inherited polycystic kidney disease.
What is Polycystic kidney disease? What is its inheritance pattern? Is it uilateral or bilateral?
Inherited defect leading to bilateral enlarged kidneys with cysts in the renal cortex and medulla. It has an autosomal recessive and autosomal dominant form.
What is Polycystic kidney disease? What is its inheritance pattern? Is it uilateral or bilateral?
Inherited defect leading to bilateral enlarged kidneys with cysts in the renal cortex and medulla. It has an autosomal recessive and autosomal dominant form.
In which patients does the autosomal recessive form of polycystic kidney disease present? What are the symptoms? What is it associated with?
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.
In which patients does the autosomal dominant form of polycystic kidney disease present? What are the symptoms? What mutations cause it? What is it associated with?
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.
What is the inheritance pattern of medullary cystic kidney disease? Where are the cysts formen? What does it result in?
Autosomal dominant defect leading to cysts in the medullary collecting ducts. Parenchymal fibrosis results in shrunken kidneys and worsening renal failure.
