Inherited renal disease

Inherited renal disease

Autosomal DominantPolycystic Kidney Disease


Pathology:                    Multiplefluid filled cysts develop within kidneys.


Aetiology:                     Mutationin PKD-1(chromosome 16)  or PKD-2(chromosome 4) lead to a defect in synthesis of polycystin-1 or polycystin-2


Symptoms:                   Haematuria,dysuria, loin pain, polyuria, nocturia, oliguria


Signs:                              Mayhave ballotable large kidneys or an enlarged cystic liver


Investigations:          Bloods: FBC, U&E, Clotting

Imaging: Renal ultrasound – confirms diagnosis


Treatment:                  Patient Education: Genetic counselling,lifestyle changes

Medical: ACE inhibiters, treatment of CKD complications

                                          Surgical: Transplantation


Complications:          Bleedinginto cysts


Liver andpancreatic cysts


Intracerebral aneurysms leading to subarachnoid haemorrhage

Cardiacvalve disorders: Mitral valve prolapse and aortic regurgitation Diverticulardisease


Prognosis:                    Asignificant number never need renal replacement therapy.

Those requiringdialysis generally have a better prognosis than most dialysis patients.

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