inherited kidney disease Flashcards
name the 5 main inherited kidney diseases?
- polycystic kidney disease
- Alports Syndrome
- Anderson Fabrys Disease
- medullary cystic kidney
- medullary sponge kidney
what is the commonest inherited cause of E.S.R.F?
1) polycystic kidney disease (PKD)
2) Alports syndrome
ADPKD is more common that ARPKD?
true
what are the genetic causes of ADPKD?
PKD1 mutation on Ch 16 - 85% cases, most severe, early renal failure
PKD2 mutation on Ch 4 - 15% cases, mild, late renal failure
when does ADPKD usually present?
middle age
__% of PKD patients have benign adenomas, why is this important?
25% of PKD patients have benign adenomas - risk of malignant transformation
symptoms of ADPKD?
decreased ability to concentrate urine loin pain hypertension haematuria cyst rupture/infection/stones renal failure
extra-renal manifestation of ADPKD?
intracranial berry aneurysms
diverticular disease
heart valve disease
abdominal/inguinal hernias
what are the hepatic manifestations of ADPKD and when do they present?
hepatic cysts
present 10 years after renal features present
liver function is usually preserved
investigation of ADPKD?
USS - multiple cysts/enlarged kidneys
if unclear - CT/MRI
management of ADPKD?
manage hypertension
hydration
reduce proteinuria
Tovalptan - to reduce cyst volume and progression
why is TOVALPTAN used in ADPKD?
to reduce cyst volume and progression
who gets ARPKD?
children
50% may not survive 1 year
what is a hallmark feature of ARPKD?
congenital hepatic fibrosis
which gene is involved in ARPKD?
PKDH1 on Ch6
how may ARPKC present in children?
hypertension
recurrent UTIs
very slow decline in GFR
pathological features of ARPKD?
elongated cysts due to dilation of medullary collecting ducts
pathological features of ADPKD?
epithelial lined cysts arising from the renal tubules
what is Alports syndrome?
X-linked disorder of type IV collagen
which gene is mutated in Alports syndrome?
COL4A5, leading to defective collagen matrix
symptoms of Alports?
haematuria
proteinuria (late, bad sign)
sensorineural defects
anterior lenticonus, cateracts
if a person presents with ___ & ___, Alports must be excluded.
deafness and haematuria
characteristic hallmark feature of Alports on a renal biopsy?
variable thickness in glomerular basement membrane
how is Alports treated?
no specific treatment ACEI slow progression manage hypertension/proteinuria dialysis transplant
