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Chapter: Medicine Study Notes : Renal and Genitourinary

Cystic Renal Disease - Kidney Disease

Autosomal dominant: PKD1 loci on chromosome 16 (worse), PKD2 on chromosome 4 (better)

Cystic Renal Disease

 

Adult Polycystic Kidney

 

·        Autosomal dominant: PKD1 loci on chromosome 16 (worse), PKD2 on chromosome 4 (better)

·        1 in 500

·        Pathogenesis: 

o   Whole nephron blows up ® squashes other nephrons ® progressive renal failure

o   Cystic lesions in other organs: liver, pancreas, lung

·        Presentation: 

o   Present with hypertension around 50 ® IHD, CVA

o   Vary in severity and onset

o   Usually only moderate proteinuria

o   Kidney‟s can get very large ® impair respiration

·        Diagnose with US or CT

·        Treatment: slow progression through aggressive blood pressure control

 

Infantile Polycystic Kidney

 

·        Autosomal recessive

·        In mild forms that escape renal failure, is associated with congenital hepatic fibrosis

 

Cystic Renal Dysplasia

 

·        Due to obstruction of urinary outflow tract prior to the union of metanephric blastema and the ascending ureteral bud 

·        ® Disordered kidney development.  Contains bone, smooth muscle, etc but is not a tumour

 

Simple Cortical Cyst

 

·        Dilation of a single nephron, usually to 5 mm – 1 cm.  Most people usually have 3 or 4

·        Usually asymptomatic

·        If large and rupture ® urinary peritonitis

 

Other

 

·        Infection: Tb and hydatids can present as cystic dilation on US

·        Medullary Sponge Kidney: Rare.  Dilated collecting ducts

 

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Medicine Study Notes : Renal and Genitourinary : Cystic Renal Disease - Kidney Disease |


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