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121

What is polycystic kidney disease?

mutations leading to cyst formation, full of fluid, leading to kidney enlargement

122

What is the main form of polycystic kidney disease?

autosomal dominant

123

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

124

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

hypertension

renal impairment

mitral valve prolapse

cerebral aneuryms, subarachnoid haemorrhage,

125

Diagnosis of polycystic kidney disease?

kidney US shows large, irregular kidneys, multiple fluid filled cysts
hypertension, hepatomegaly
creatinine
head imaging

FH +2cysts 60

126

How does age affect polycystic kidney disease?

cysts increase in size with age, leading to more kidney tissure destruction and loss of renal function

127

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

128

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

129

What is the difference in presentation of polycystic kidney disease in men and women?

men - haematuria
women - pain

130

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

131

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

132

What is medullary sponge kidney?

dilation of collecting ducts in papillae, with occasional cystic change, small caliculi form within the cysts

133

How does medullary sponge kidney present?

renal colic, haematuria, hypercalciuria, renal tube acidosis, medullary sponge like appearance

134

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

135

Causes of polycystic kidney disease?

simple, acquired, CKD, lithium, congenital: ADPKD, ARPKD, TS. VHL, OFDS1

136

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

137

What is tuberous sclerosis?

adenomasebations, spots around the nose, hyperpigmented patches

138

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

139

What is a typical GFR?

120ml/min, 20% of cardiac output

140

Examples of creatinine secretion inhibitors?

trimethoprim, cimetidine, ritonavir

141

How do you predict creatinine generation?

based on age, race, gender

142

Where is most stuff reabsorbed in the kidney?

in the proximal tubule, reabsorbing Na, glucose, Hco3-, amino acids

143

What does the descending loop of Henle reabsorb?

Na, K, Cl

144

What does the distal convoluted tubule reabsorb?

Na and Cl

145

What does the collecting duct reabsorb?

sodium, regulated by aldosterone and secretes potassium and hydrogen ions

146

What dirves cellular K+ uptake in the kidney?

insulin and catechloamines

147

Treatment of hypokalaemia?

loop diuretics and thiazide diuretics

148

Treatment of hyperkalaemia?

spironolactone, amiloride, ace-i, arbs, trimethoprim, calcineruin

149

What does a increase in aldosterone cause?

sodium retention and potassium excretion

150

When are ACE-I and ARB used in CKD treatment?

in glomeular hypertension which causes proteinuric CKD