Flashcards in Inherited Diseases of the Kidney Deck (29):
What are the 2 forms of inheritance of polycystic kidney disease?
Which is more common, ADPKD or ARPKD?
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?
What pathologies occur in ADPKD on the kidneys?
Massive cyst enlargement
Epithelial lined cysts arise from a small population of renal tubules
How des ADPKD present?
Reduced urine concentrating ability
What are the extra-renal manifestations of ADPKD and which is most common?
Hepatic cysts - most common
Intra-cranial aneurysm - uncommon
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
What are the complications of ADPKD?
ARPKD is always associated with what?
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?
Kidneys always palpable
Slow delcine in GFR
What is the other term for Alport's Syndrome?
How is Alport's syndrome inherited?
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
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?
How is a diagnosis of Anderson Fabry's disease made?
Plasma/ leukocyte a-GAL activity
Renal biopsy - concentric lamellar inclusion within lysosomes
What is the skin condition seen in Anderson Fabry's disease?
How is Medullary cystic kidney inherited?
Autosomal dominant inheritance
Macroscopically describe Medullary cystic kidney?
Cortex and edulla are both shrunken
Presence of irregularly distributed cysts of variable size at the corticomedullary junction and in the outer medulla
Treatment mechanism for meduallary cystic kidney?