Genetic Kidney Diseases Flashcards
four examples of genetic kidney diseases
- Polycystic kidney disease (PKD)
- Alport’s syndrome
- Anderson Fabrys disease
- Medullary cystic kidney disease
mutations in ADPKD
PKD gene 1 chromosome 16 and some have PK2 on chromosome 4
what is ADPKD?
there are lots of cysts in renal tubules leading to large kidneys
presentation of ADPKD
reduced urine concentration ability chronic pain early hypertension haematuria cyst infection stones renal failure
extra-renal associations with ADPKD
hepatic cysts intra-cranial berry aneurysms cardiac disease (mitral/aortic valve prolapse) diverticular disease abdominal/ inguinal hernias
diagnosis of ADPKD
mass/ large ballotable kidneys
USS
genetics with mutation analysis
what is seen on USS of ADPKD
multiple bilateral cysts
management of ADPKD
genetic counselling (AD) tolvaptan control hypertension hydration renal failure management
role of tolvaptan in ADPKD?
reduces cyst volume and progression
genetics of ARPKD
gene PKDH1 on chromosome 6
what is ARPKD
develops cysts in collecting ducts but the kidneys remain normal size
diagnosis of ARPKD
USS
what suggests ARPKD in children?
congenital hepatic fibrosis
what is acquired cystic disease?
long-term dialysis develops small cysts
what is Alport’s syndrome also called?
hereditary nephritis
what is Alport’s syndrome/ hereditary nephritis?
X-linked disorder of type IV collagen on COL4A5 gene
presentation of Alport’s syndrome/ hereditary nephritis?
haematuria and proteinuria seen later
extra-renal associations with Alport’s syndrome/ hereditary nephritis?
SNHL (deafness)
anterior lenticonus (protrusion of lens into anterior chamber)
leiomyomatosis of oesophagus and genitalia
diagnosis of Alport’s syndrome/ hereditary nephritis?
suspect in haematuria +/- hearing loss
renal biopsy shows variable thickness of GBM
when is renal biopsy contra-indicated?
thrombocytopenia small kidneys uncontrolled hypertension untreated UTI coagulation defects
management of Alport’s syndrome/ hereditary nephritis?
manage BP ad proteinuria
potentially dialysis/ transplant
what is Anderson Fabrys disease?
X-linked lysosomal storage disease with deficient a-galactosiderase A
what does Anderson Fabrys disease affect?
kidneys
lungs
liver
erythrocytes
presentation of Anderson Fabrys disease
renal failure
cutaneous= angiokeratomas
cardiac= cardiomyopathy, valvular disease
neurological= stroke, acroparaesthesia
diagnosis of Anderson Fabrys disease
plasma/ leukocyte a-GAL activity
renal biopsy
skin biopsy
management of Anderson Fabrys disease
enzyme replacement= fabryzyme
what is the genetics of medullary cystic kidney disease?
sporadic inheritance
what is medullary cystic kidney disease?
dilatation of collecting ducts and cysts with calculi
what is unusual in medullary cystic kidney disease?
renal failure
diagnosis of medullary cystic kidney disease
excretion urography to demarcate calculi
