Inherited Diseases of the Kidney Flashcards
(29 cards)
What are the 2 forms of inheritance of polycystic kidney disease?
Autosomal recessive
Autosomal dominant
Which is more common, ADPKD or ARPKD?
ADPKD
What are the 2 gene mutations and the chromosomes that they appear on that can lead to ADPKD? Which is most common?
PKD gene 1 - Chr 16 - most common 85%
PKD gene 2 - Chr 4 - 15%
Which PKD1 or PKD2 patients develop ESRF earlier?
PKD1
What pathologies occur in ADPKD on the kidneys?
Massive cyst enlargement
Massive kidneys
Epithelial lined cysts arise from a small population of renal tubules
Benign adenomas
How des ADPKD present?
Reduced urine concentrating ability Chronic pain HTN Haematuria cyst infection Renal failure
What are the extra-renal manifestations of ADPKD and which is most common?
Hepatic cysts - most common Intra-cranial aneurysm - uncommon Cardiac disease Diverticular disease Hernias
What are the 1st and 2nd line radiological techniques for diagnosing ADPKD?
1st - US
2nd - Ct or MRI when US is unclear
ADPKD in children presents when?
In utero or first year of life
What suggests ARPKD rather than ADPKD in children?
US suggestion of congenita hepatic fibrosis suggests ARPKD
How is ADPKD managed?
HTN rigorously controlled Hydration Proteinuria reduction Dialysis Renal transplant
What are the complications of ADPKD?
Cyst haemorrhage
Cyst infection
Renal failure
ARPKD is always associated with what?
hepatic lesions
What gene is responsible for ARPKD and where is it?
PKHD1 on Chr 6
How does ARPKD present histologically?
Cysts are seen appearing from the collecting duct system
How does ARPKD present clinically?
Varies Kidneys always palpable HTN Recurrent UTIs Slow delcine in GFR
What is the other term for Alport’s Syndrome?
Hereditary Nephritis
How is Alport’s syndrome inherited?
X-linked inheritance
What causes Alport’s syndrome?
Mutation in the COL4A5 gene eads to deficient collagenous matrix
What is the characteristic feature of Alport’s syndrome and how else may it present?
Haematuria - characteristic feature
Proteinuria - seen later but confers bad prognosis
SNHL
Ocular defects
Leiomyomatosis of oesophagus/ genitalia - rare
On renal biopsy what is seen in Alport’s syndrome?
variable thickness GBM and splitting of the lamina densa
Anderson Fabry’s disease is what?
Inborn error of glycosphingolipid metabolism (deficiency of a-galactosidase A)
X-linked lysosomal storage disease
Where does Anderson Fabry’s disease present?
Kidneys
Liver
Lungs
Erythrocytes
How is a diagnosis of Anderson Fabry’s disease made?
Plasma/ leukocyte a-GAL activity
Renal biopsy - concentric lamellar inclusion within lysosomes
Skin biopsy
