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
What are features of Alport’s ?
haematuria; SNHL; ocular-anterior lenticonus; leiomyomatosis or oesophagus/genitalia
What is the feature seen onrenal biopsy with Alport’s?
variable thickness GBM
What is the treatment for Alport’s?
nothing specific- tx of BP; proteinuria; dialysis/ transplantation
What is the problem in Anderson Fabrys disease?
inborn error of glycosphingolipid metabolism- lack of alpha galactosidase
What is the genetic mutation in anderson Fabrys disease?
x-linked
What organs does Anderson Fabrys affect?
kidneys; liver; lungs; erythrocytes
What are hte clinical features of Anderson Fabrys disease?
renal failure; cutaneous angiokeratomas; cardiomyopathy; valvular disease; stroke; acroparaesthesia
How is Anderson Fabrys disease diagnosed?
plasma/leukcyte a-GAL actvitiy; renal biospy; skin biopsy
What do angiokeratomas look like?
clusters of dark-red to blue lumps in the umbilical area
What does a renal biopsy show with Fabry disease??
concentric lamellar inclusions within lysosomes
What is the treatment for Anderson Fabrys disease?
enzyme replacement- fabryzyme; mx of complications
What is the inheritance of medullary cystic kidney?
autosomal dominant
What are the features of medullary cystic kidneys?
abnormal renal tubules leading to fibrosis, cysts are in the corticomedullary junction/medullar (as opposed to cortex as in ADPKD)
What is the diagnosis of medullary cystic kidneys?
CT
What is the treatmnet for medullary cystic kidney?
transplantation
What is medullary sponge kidney?
dilatation of collectin ducts, medullary area appears like a psonge- cysts have calculi
What is the inheritance of medullary sponge kidney?
sporadic
How is medullary sponge kidney diagnosed?
excretion urography- to demarcate calculi
