POLYCYSTIC KIDNEY DISEASE

POLYCYSTIC KIDNEY DISEASE

  • It is a genetic disorder, resulting in the development and growth of multiple cysts within the kidney



  • Autosomal dominant polycystic kidney disease (ADPKD) - 75% Chances of expression in next generation
  • Autosomal recessive polycystic kidney disease (ARPKD) - 25% Chances of expression in next generation

  • chromosome 16 PKD1 gene defect - polycystin 1 protein affected
  • chromosome 4 PKD2 gene defect - polycystin 2 protein affected


  • Multiple cysts present both in medulla and cortex
  • Renomegaly and progressive development of cyst occurs
  • Development of bleeding in cyst can occur and which can cause flank pain



CLINICAL FEATURE:

Usual age of presentation = 30 -45 years

  • Flank pain (due to stone formation, bleeding in cyst )
  • UTI(urinary tract infection): higher (chance of pyelonephritis)
  • stones incidence higher : Urate stones
  • can develop Renal cell cancer (RCC) : Bilateral, multicentric
  • GFR decreased ( due to cyst)
  • renin concentration increasing → retention of sodium → hypertension(headache)



EXTRA RENAL MANIFESTATION:
  • Liver cyst (lined by biliary endothelium)
pancreatic cyst
spleen cyst
  • CNS - Berry aneurysm → subarachnoid hemorrhage → headache
- Arterial dolichoectasia → malformation in vascular supply of brain → arterial dissection → can cause  stroke

  • CVS - Mitral valve prolapse , tricuspid regurgitation
  • GIT - Colonic diverticulosis (constipation)






WORKUP:
  • CT abdomen / USG
  • T2 Weighted imaging in MRI
- Contrast study done only after kidney function test as contrast induced nephropathy can occur
- DOC for contrast induced nephropathy - N - Acetyl cysteine and supportive therapy with IV Fluids
  • KFT(kidney function test) - to check BUN/creatinine
  • serum electrolyte: k+ increased in stage 3 and 4 CKD
  • Genetic linkage study: to identify gene involved
  • MR Angiography head, Echocardiography, Ba enema



TREATMENT:
  • Control hypertension = ACE inhibitors/ARB'S
- Target BP to be maintained 140/90mm Hg in patient of ADPKD
(Target BP 130/80 mm Hg in CKD)
  • Lipid soluble antibiotics = cotrimoxazole,Quinolones

  • Analgesia for relieving pain, because - colonic diverticulosis,flank pain

  • Transcutaneous electrical nerve pacing

  • kidney transplant is recommended in stage 4 patients
-  if donor is not available then hemodialysis
  • pre transplant nephrectomy

  • sirolimus(mTOR INHIBITOR) - inhibit cell proliferation and can reduce progressive of cyst

  • Tolvaptan (v2 antagonist)/octreotide (long acting) - slow the decline of renal function





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