Congenital disorders Flashcards
What is horseshoe kidney?
Conjoined kidneys usually connected at the lower pole
MC congenital renal anomaly
Why are horseshoe kidneys usually located lower in the abdomen?
The horseshoe kidney gets caught on the inferior mesenteric artery root during its ascent from the pelvis to the abdomen
What is renal agenesis?
Absent kidney formation - bilateral or unilateral
Unilateral leads to hypertrophy of the existing kidney; hyperfiltration increases risk of renal failure later in life
Bilateral agenesis leads to oligohydraminos with lung hypoplasia, flat face with low set ears, and developmental defects of the extremities (potter sequence) ; incompatible with life
What is dysplastic kidney?
Noninherited congenital malformation of the renal parenchyma characterized by cysts and abnormal tissue
Usually unilateral; when bilateral, must be distinguished from inherited polycystic kidney disease
What is Polycystic kidney disease (PKD)?
Inherited defect leading to bilateral enlarged kidneys with cysts in the renal cortex and medulla
How does the autosomal recessive form of PKD present?
Presents in infants as worsening renal failure and HTN
Newborns may present with potter sequence
What is autsomal recessive PKD associated with?
Associated with congenital hepatic fibrosis and hepatic cysts
How does autosomal dominant form of PKD present in adults?
Presents in young adults as HTN (due to inc reased renin), hematuria, and worsening renal failure
What causes autsomal dominant PKD?
mutation in APKD1 or APKD2 gene; cysts develop over time
What is associated with PKD dominant form?
Berry aneurysm (MCC of death)
hepatic cysts
mitral valve prolapse
What is medullary cystic kdiney disease?
Inherited (autosomal dominant) defect leading to cysts in the medullary collecting ducts
Parenchymal fibrosis results in shrunken kidneys and worsening renal failures
What are the main differences between the presentation of PK and medullar cystic kidney dz?
PKD causes cysts in the renal medulla AND cortex
Medullary cystic kidney dz only causes cysts in the medulla
PKD –> BIG kidney
Medullary cystic kidney disease –? small kidneys
