Polycystic kidney disease
Polycystic kidney disease 1001
Leonard M. Miller School of Medicine
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This 0 page Study Guide was uploaded by Hanyao Foong on Sunday January 3, 2016. The Study Guide belongs to 1001 at Leonard M. Miller School of Medicine taught by in Winter2015. Since its upload, it has received 37 views. For similar materials see Medcine in Military Science at Leonard M. Miller School of Medicine.
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Date Created: 01/03/16
Autosomal dominant polycystic kidney disease ADPKD Common 11000 Innumerable cyst causing bilaterally enlarged kidneys ultimately destroying kidney parenchyma 85 mutation in PKD1 chromosome 16 D reach ESRF by age 505 15 mutation in PKD2 gene chromosome 4 reach ESRF by age 705 Symptoms Vague abdominalloin pain Haematuria Hypertension Urinary tract infection cysts infection Renal failure VVVVV Progressive increase in size often leads to abdominal discomfort and there may be haemorrhage into a cyst causing haematuria or infection Extrarenal benign hepatic cysts mitral valve prolapse berry aneurysm D subarachnoid haemorrhage SAH ovarian cysts diverticular disease Death from complications of CKD or Hypertension due to increased renin production Treatment gt Monitor UampE gt Hypertension should be treated aggressively ACE best choice target lt13080mm Hg gt Treat infections gt Dialysistransplantation for ESRF gt Genetic counselling can be clinically silent for many years so family screening is important gt Pain laparoscopic cyst removalnephrectomy gt Increased water intake decreased Na intake avoid caffeine may help Screening for PKD gt USS screening good sensitivity and speci city gt Genetic testing for PKD1 is dif cult as the gene is large and there are hundreds of described mutations gt Genetic testing for PKD2 mutations is available in specialist centres Screening for SAH gt using magnetic resonance angiography gt may be done in 1St degree relatives of those with SAHADPKD gt Some screen with no family hx esp for certain occupations eg Pilot gt Autosomal recessive polycystic kidney disease Rare 140 000 Mutation in Chromosome 6 Signs gt Many present in infancy with multiple renal cysts and Congenital hepatic brosis Signi cant oliguric renal failure in utero lead to Potter sequence Renal failure in utero lead to oligohydramnios D compression of developing fetus D limb deformities facial anomalies lowset ears and retrognathia and compression of chest D pulmonary hypoplasia cause of death
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