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
Medullary cystic disease: Juvenille incidence
1 in 50,000 - 100,000
Medullary cystic disease genetics
AR
NPHP1 gene-cc2
Ultrasound findings in Medullary cystic disease (juveniell)
Normal or small sized
Cortico-medullary cysts - may be present
Clinical presentation of Medullary cystic disease: Juvenille
Present in late childhood
Polyuria/polydipsia
Anaemia
Complications of Medullary cystic disease: Juvenille
Eye abnormalities: Senior-Loken Syndrome
Skeletal abnormalities
Prognois of Medullary cystic disease: Juvenille
ESRF in adolescence
Medullary cystic disease (adults) genetics
AD
10% - no family history
Clinical features of medullary cystic disease
Renal cysts
Normal, small sized kidneys
Hyperuricaemia
Gout
Complications of medullary cystic disease
No extra renal involvement
Prognosis of medullary cystic disease
ESRF after 4th decade
Cystic disease associated syndromes
HNF1β Syndrome
Bardet-Biedl syndrome
Joubert syndrome
Tuberous Sclerosis
HNF1β Syndrome
Renal Cysts and Diabetes
AD
Assoc with diabetes – MODY
Bardet-Biedl syndrome
AR
Extra-renal: Obesity; Learning disability; Retinal defects; Hypogonadism
Joubert syndrome
AR
Liver fibrosis
Cerebellar vermis hypoplasia/aplasia
Retinal defects
Tuberous sclerosis
AD condition
Mutations in TSC1 – 9q34 or TSC2 – 16p13.3 genes
Renal: angiomyolipoma, cystic renal disease
