Congenital Renal Disease - Sujeet Flashcards
What are ducts of Bellini (aka papillary ducts)?
The largest collecting ducts that smaller ducts empty into. Ducts of Bellini empty into the renal calyces.
Which cells produce and maintain the GBM: glomerular endothelial cells or podocytes?
glomerular endothelial cells
What type of collagen makes up the GBM?
Type IV collagen
Which parts of the glomerular filtration barrier (endothelial cells, GBM, podocytes) are negatively charged?
All three are negatively charged
What notable protein can be found in mesangial cells?
Myosin filaments (they are specialized SMCs)
Horseshoe Kidney
- How common is it?
- Where do most fusions occur?
- What do patients with this disorder have an increased risk of?
- What other condition does this disorder show an increased incidence with?
Horseshoe Kidney
- Most common congenital kidney disorder
- 90% at lower pole
- Increase risk of kidney stones and infections
- Increased incidence with Turner’s Syndrome
Name five cystic renal diseases.
- Renal Dysplasia
- Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Medullary Sponge Kidney
- Acquired Cystic Disease
Renal Dysplasia
- How common is it?
- Is it unilateral or bilateral?
- How can it be detected?
- How does it appear?
Renal Dysplasia
- 1 in 4,300 live births
- Either. (Wiki) ~20-35% are bilateral cases. Bilaterality more common in females. Severe bilateral dysplasia is incompatible with life.
- Detect via prenatal ultrasound or by a palpable mass. Many go undetected into adulthood.
- Multicystic appearance
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- How common is it? What ethnicity is it most common in?
- How serious is it?
- What gene, on which chromosome, is associated with ARPKD?
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Rare (1 in 20,000). More frequent in caucasians.
- Very. Perinatal mortality is 30-50%
- PKHD1 gene, on chromosome 6p21
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- What maternal condition is ARPKD associated with? What consequences does this condition have on the infant?
- How is it diagnosed?
- What extrarenal manifestations does ARPKD have?
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Maternal oligohydramnios. This causes:
- Potter’s facies
- Pulmonary hypoplasia
- Dx in utero with ultrasound:
- oligohydramnios
- hyperechoic kidneys
- decreased urine in fetal bladder
- Extrarenal:
- Hepatic fibrosis
- Cholangitis (common bile duct infection)
- Portal hypertension
- Varices
- GI bleeding
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- What is the gross morphology?
- What is the microscopic morphology?
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Gross: Smooth kidney with numerous small cysts
- cysts are cortical and medullary
- cysts are cylindrical and extend radially through the cortex
- Microscopic: Cysts lined by cuboidal epithelium - may see epithelial hyperplasia
- glomeruli are normal
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- How common is it? How common is having family Hx?
- What two genes (on which chromosomes?) can lead to ADPKD when either is mutated?
- Which mutation is worse?
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- More common than recessive variant; 1:400-1000
- Family Hx absent in 25-40% (new mutations)
- Mutations:
- PKD1 gene on chr. 16 (90%)
- PKD2 gene on chr. 4 (10%)
- Pts with PKD1 mutations progress to renal failure at earlier ages
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Describe the morphology.
Are the nephrons themselves affected?
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Morphology:
- Abnormal epithelial cell differentiation
- Highly proliferative
- Secretion of fluid into cysts
- loss of connections to functional nephrons
- Abnormal ECM
- Interstitial fibrosis
1-2% of nephrons show cystic dilatation
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Name six renal manifestations of ADPKD.
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Hematuria w/ mild proteinuria
- Hypertension
- Progressive renal failure
- ESRD by age 57-73 in 50% of pts
- Infections
- Stones
- Pain
(EVERYTHING BAD)
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Name six extrarenal manifestations of ADPKD.
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- Hepatic cysts (40%)
-
Intracranial (Berry) aneurysms (10-30%)
- Can also see aortic, coronary aneurysms
- Cardiac valve problems
- Hernias
- Pancreatic cysts
- IVC thrombosis