CVPR Week 8: Cystic disease and renal neoplasia Flashcards
Types of cystic diseases of the kidney
8 listed
- Multicystic renal dysplasia
- Polycystic kidney disease
- Medullary cystic disease
- Acquired (dialysis-associated) cystic disease
- Localized (simple) renal cysts
- Renal cysts in hereditary malformation syndromes (tuberous sclerosis)
- Glomerulocystic disease
- Extraparenchymal renal cysts (pyelocalyceal cysts, hilar lymphangitic cysts)
Types of polycystic kidney disease
2 listed
- Autosomal dominant (adult) polycystic disease
- Autosomal recessive (childhood) polycystic disease
Types of medullary cystic disease
2 listed
- Medullary sponge kidney
- nephronophthisis
ADPKD AKA
Autosomal dominant polycystic kidney disease
ADPKD etiology
Autosomal dominant mutation of PDK1 or PDK2 genes
ADPKD epidemiology
1 of every 400-1000 live births
ADPKD clinical features and complications
5 listed
- hematuria
- flank pain
- TUI
- Renal stones
- HTN
ADPKD pathologic features
- Large multicystic kidneys
- liver cysts
- berry aneurysms
ADPKD prognosis
Chronic renal failure beginning at age 40-60 requiring transplant or dialysis
ADPKD gross histological features
- Bilateral enlarged
- can weigh as high as 4 Kg each kidney
- up to 3-4 cm, no intervening parenchyma
ADPKD Gross histological features
- Bilateral enlarged
- can weigh as high as 4 Kg each kidney
- up to 3-4 cm, no intervening parenchyma
ADPKD gross histological features
- Bilateral enlarged
- can weigh as high as 4 Kg each kidney
- up to 3-4 cm, no intervening parenchyma
ADPKD histological features
PDK1 gene genome location
Chromosome 16p13.3
PDK1 gene encodes
Polycystin-1, a large (460KD0 integral membrane protein)
PDK1 gene gross location
Localized to tubular epithelial cells particularly those of the distal nephron
PDK1 gene function
not yet clear but it contains domains involved in cell-cell and cell-matrix interactions
PDK2 gene genome location
Chromosome 4p21
PDK2 gene encodes
plycystin-2 which is an integral membrane protein
PDK2 gene gross location
localized to all segments of renal tubules
PDK2 gene function
Functions as a Ca2+ permeable cation channel
Possible mechanism of ADPKD
ARPKD AKA
Autosomal recessive polycystic kidney disease
ARPKD etiology
Autosomal recessive mutation of PKHD1 gene
ARPKD pathologic features
enlarge cystic kidneys at birth (infantile polycystic kidney disease)
ARPKD clinical features and complications
hepatic fibrosis
ARPKD prognosis
viable
death in in infancy or childhood
ARPKD gross histologic features
- 1-2 cm uniformly distributed
- spongy appearance
- in utero, oligohydramnios or anhydramnios
ARPKD gross histologic features
- 1-2 cm uniformly distributed
- spongy appearance
- in utero, oligohydramnios or anhydramnios
ARPKD histologic features
ARPKD histologic features
PKHD1 gene genome location
chromosome 6p21-23
PKHD1 gene encodes
a large protein fibrocystin (447-KD) integral membrane protein
Fibrocystin location
localized to the primary cilium of tubular cells similar to polycystin 1 and 2
encoded by PKHD1
PKHD1 gene possible mutations?
a wide range of possible mutations
Multicystic renal dysplasia prevalence
More common than ARPKD
Multicystic renal dysplasia etiology
- no inheritance pattern
- part of a malformation complex
Multicystic renal dysplasia unilateral/bilateral
often unilateral but bilateral cases are often asymmetric
Multicystic renal dysplasia clinical manifestations and complications
A/W urinary tract anomalies (uteropelvic obstruction, ureteral agenesis atresia)
Multicystic renal dysplasia gross histological features