Inherited Disorders of the Kidney Flashcards
What are the two types of PKD?
autosomal recessive and autosomal dominant
Which form of PKD is more common?
autosomal dominant
Where is the PKD1 gene mutation?
chromosome 16
Where is the PKD2 gene mutation?
chromosome 4
Whwat is the most common genetic mutation with ADPKD?
PKD1
What is the significance of PKD1 compared with PKD2?
PKD1 patients develop ESRD at an earlier stage
What is the pathology of ADPKD?
epithelial lined cysts arise from the renal tubules
What are the clinical features of ADPKD?
reduced urine concentration ability; chronic pain; hypertension; haematuria; cyst infection; renal failure
What are the causes of haematuria with ADPKD?
cyst rupture, cystitis and stones
What are the extra renal manifesations of ADPKD?
hepatic cysts and intracranial aneurysms; cardiac disease; diverticular disease; hernias
What symptoms can hepatic cysts give rise to?
SOB; pain; ankle swelling
What are hte forms of cardiac disease seen with ADPKD?
mitral/aortic valve prolapse; valvular disease
What type of hernia are common with ADPKD?
abdominal and inguinal
How is ADPKD diagnosed?
USS- renal enlargemnet and presence of mulitple bilateral cysts
What imaging can be done if diagnosis is not clear with USS for ADPKD?
CT/ MRI
How can ADPKD in children be differentiated from ARPKD?
ARPKD has congenital hepatic fibrosis whereas ADPKD doesn’t
What is the management for ADPKD?
hypertension; hydration; proteinuria reduction; cyst haemorrhage and infection; tolvaptan
What is the purpose of tolvaptan?
reduce cyst volume and progression
What is tolvaptan?
vasopressin receptor antagonist
Where is the gene mutation for ARPKD?
chromosome 6
Where are the cysts found in ARPKD?
collecting duct system
What are the signs of ARPKD?
hypertension; recurrent UTIs; palapble kidneys; portal hypertension
What is the inheritance of Alport’s syndrome?
X-linked
What is the pathology of Alport’s syndrome?
disorder of type 4 collagen matrix
