Flashcards in Genitourinary Deck (378)
What is polycystic kidney disease?
mutations leading to cyst formation, full of fluid, leading to kidney enlargement
What is the main form of polycystic kidney disease?
What are the 2 main mutations in autosomal dominant polycystic kidney disease?
PKD1 gene (c16) which codes for the polycystin 1 protein which regulates tubular and vascular development
PKD2 gene (c4) is less cases
Symptoms of polycystic kidney disease?
acute loin pain from cyst haemorrhage, infection, or urinary stone formation
abdominal discomfort from renal enlargement
flank pain/back pain
mitral valve prolapse
cerebral aneuryms, subarachnoid haemorrhage,
Diagnosis of polycystic kidney disease?
kidney US shows large, irregular kidneys, multiple fluid filled cysts
FH +2cysts 60
How does age affect polycystic kidney disease?
cysts increase in size with age, leading to more kidney tissure destruction and loss of renal function
Treatment of polycystic kidney disease?
monitor BP, ACE-I, dialysis, renal transplant, familial screening, geneic counselling, gene linkage analysis, laproscopic cyst removal, increase water, decrease sodium, avoid caffiene, target sites of action of PKD1/2
How do renal cysts form?
cysts grow in planar polarity then proliferate and multiply so grow outwards of lumen, destroys surrounding tissue and is disconnected from lumen, fluid secretion and apicobasal polarity, causing obstruction and hydronephrosis
What is the difference in presentation of polycystic kidney disease in men and women?
men - haematuria
women - pain
When is mutation analysis indicated in polycystic kidney disease?
potential LRD under 40
older patient and no FH
atypical cystic disease
prenatal testing for early onset of disease
pre implantation genetic diagnosis
What is autosomal recessive polycystic kidney disease and how does it present?
1/40000, on chromosome 6, variable signs, may present in infancy with multiple renal cysts and congenital hepatic fibrosis, no specific therapy
What is medullary sponge kidney?
dilation of collecting ducts in papillae, with occasional cystic change, small caliculi form within the cysts
How does medullary sponge kidney present?
renal colic, haematuria, hypercalciuria, renal tube acidosis, medullary sponge like appearance
What is meduallary cystic disease?
autosomal recessive mutation in NPHP1-4 genes, mutating the proteins nephrocystin and inversin in the cilia of the renal tubules
Causes of polycystic kidney disease?
simple, acquired, CKD, lithium, congenital: ADPKD, ARPKD, TS. VHL, OFDS1
What is orofacial digital 1 syndrome?
in females (as it is lethal to males), abnormalities to dental and roof of mouth, extra digits and renal cysts
What is tuberous sclerosis?
adenomasebations, spots around the nose, hyperpigmented patches
What is Von Hippel Lindaw?
a pre renal cell carcinoma syndrome, increased renal cancer ris, inherited germline mutations and can devlop brain tumours and hermangioblastomas
What is a typical GFR?
120ml/min, 20% of cardiac output
Examples of creatinine secretion inhibitors?
trimethoprim, cimetidine, ritonavir
How do you predict creatinine generation?
based on age, race, gender
Where is most stuff reabsorbed in the kidney?
in the proximal tubule, reabsorbing Na, glucose, Hco3-, amino acids
What does the descending loop of Henle reabsorb?
Na, K, Cl
What does the distal convoluted tubule reabsorb?
Na and Cl
What does the collecting duct reabsorb?
sodium, regulated by aldosterone and secretes potassium and hydrogen ions
What dirves cellular K+ uptake in the kidney?
insulin and catechloamines
Treatment of hypokalaemia?
loop diuretics and thiazide diuretics
Treatment of hyperkalaemia?
spironolactone, amiloride, ace-i, arbs, trimethoprim, calcineruin
What does a increase in aldosterone cause?
sodium retention and potassium excretion