Cystic Kidney disease Flashcards
Cystic renal diseases
ARPKD
ADPKD
Medullary cysts (adult onset)
Medullary cysts (juevenille)
ARPKD incidence
1 in 20,000
ARPKD genetics
AR
Chromosome 6 (6p21)
Mutation in PKHD1 gene
US in ARPKD
Large echogenic kidneys;
Microcysts: 1-2mm
Occ macrocysts : >1-2cm
Pathology on ARPKD
Tubular dilatation of collecting duct
Clinical presentation of ARPKD
Antenatal:
- Antenatal US
- Oligohydramnios
Infancy:
- Large palpable renal mass
- Respiratory distress
- Renal failure:
a. HT
b. Hyponatremia: urinary concentrating defect
Childhood:
- Renal failure
- HT
Complications of ARPKD
Congenital hepatic fibrosis: subclinical to liver disease (portal hypertension, ascending cholangitis)
Prognosis of ARPKD
20-30% mortality in neonatal period
5yr survival: 70-88%
Progression to over 15 years is 50%
ADPKD incidence
1 in 500-1000
Genetics of ADPKD
AD
PKD1 mutation – cc 16: 85% ; polycystin 1
PKD2 mutation – cc 4: 10-15%; polycystin 2
5-10% new mutation
Ultrasound of ADPKD
Large echogeneic kidneys
Macrocysts:
-Infancy- OCC
-Older child - multiple
Pathology of ADPKD
cysts originating from tubules
Clinical presentation of ADPKD
Antenatal:
Antenatal US
Childhood: Haematuria HT Flank pain UTIs Renal US: may be unilateral
Adult: Majority of presentations Renal US: often 2nd-3rd decade HT Haematuria
Complications of ADPKD
Mitral valve prolapse Cerebral Aneurysm AV malformation Hepatic/pancreatic cysts Colonic diverticula/hernia
Prognosis of ADPKD
progression to ESRF in adulthood
50% by 60yrs
