Congenital Flashcards
What is a Horseshoe Kidney?
Conjoined kidneys usually connected at the lower pole
What is the most common congenital renal anomaly?
Horseshoe Kidney
Where are Horseshoe kidney’s located? What do they get caught on?
- Kidney is abnormally located in lower abdomen
- Get caught on the inferior mesenteric artery root during ascent from the pelvis to the abdomen
What is Renal Agenesis?
Absent kidney formation
-May be unilateral or bilateral
What does Unilateral Renal Agenesis cause?
- Hypertrophy of the existing kidney
- Hyperfiltration (doing the work of two kidneys) increases risk of renal failure later in life
What does Bilateral Renal Agenesis cause?
-It leads to oligohydraminos with lung hypoplasia, flat face, low set ears and developmental defects of extremities (Potter Sequence)
Is Bilateral Renal Agenesis compatible with life?
NO
What is a Dysplasic Kidney?
NONINHERITED, congenital malformation of the renal parenchyma
What is a dysplastic kidney characterized by?
Cysts and abnormal tissue
Is a Dysplastic kidney usually unilateral or bilateral?
- Usually unilateral
- When bilateral, must be distinguished from inherited polycystic kidney disease (often on exams!)
What is polycystic kidney disease (PKD)?
Inherited defect leading to bilateral enlarged kidneys with cysts in renal cortex and medulla
What are the two genetic forms of PKD?
- Autosomal recessive
2. Autosomal dominant
What does autosomal recessive PKD present with? What populations is it seen in?
- Infants with worsening renal failure and hypertension
- Newborns may present with Potter sequence –> it’s like they don’t have any kidneys because the kidneys aren’t functional
What pathological findings are associated with autosomal recessive PKD?
Congenital hepatic fibrosis (leads to portal hypertension _ and hepatic cysts
[So overall: cysts in liver –> fibroblasts & cysts in kidneys]
What does autosomal dominant PKD present with? What populations is it seen in?
-Young adults with hypertension (due to increased renin), hematuria, and worsening renal failure.
What features are associated with autosomal dominant PKD?
- Berry aneurysm
- Hepatic cysts
- Mitral valve prolapse
What mutation cases autosomal dominant PKD?
Mutation in APKD1 or APKD2 gene
How do the cysts develop in autosomal dominant PKD?
Over time
Where are the “cysts” in autosomal dominant PKD?
- Kidney
- “Brain”
- Liver
What is Medullary Cystic Kidney Disease?
Inherited (autosomal dominant) defect leading to cysts in the medullary collecting ducts
What pathology is associated with Medullary Cystic Kidney Disease?
Parenchymal fibrosis which results in shrunken kidneys and worsening renal failure.
