Poly cystic kidney disease

Poly cystic kidney disease

1. POLY CYSTIC KIDNEY DISEASE (PKD) SUNIL KUMAR.P Haematology& Transfusion 2/13/2018 1 SUNIL KUMAR.P

2. Definition Types Genes…. Etiology &Pathogenesis Signs and symptoms Clinical features Morphological features Diagnosis treatment 2/13/2018 2 SUNIL KUMAR.P

3. 2/13/2018 3 SUNIL KUMAR.P

4. 2/13/2018 4 SUNIL KUMAR.P

5. DEFINITION Polycystic disease of the kidney (PKD) is a disorder in which major portion of the renal parenchyma is converted into cysts of varying size . 2/13/2018 5 SUNIL KUMAR.P

6. TYPES 1. Autosomal Dominant Polycystic Kidney Disease(ADPKD) ( Inherited as a Autosomal Dominant Disease… most common in Adult) 2. Autosomal Recessive Polycystic Kidney Disease (ARPKD) (Inherited as a Autosomal Recessive Disease….most common in infants) 2/13/2018 6 SUNIL KUMAR.P

7. Polycystic Kidney Disease 2/13/2018 7 SUNIL KUMAR.P

8. Autosomal dominant polycystic kidney disease(ADPKD) Definition : (ADPKD) is a multisystem disorder characterized by multiple, bilateral renal cysts associated cysts in the other organs such as liver , pancreas, and archnoid membrane. 2/13/2018 8 SUNIL KUMAR.P

9. ADPKD…. Is a genetic disorder mediated primarily by mutation in two different genes and is expressed in an Autosomal Dominant pattern, with variable expression. 2/13/2018 9 SUNIL KUMAR.P

10. ADPKD ADPKD – Is Relatively common in Adults Incidence – 1:400 to 1:1000 ADPKD – is cause of ESRD or failure in approx. 4% of haemodialysis patients. Inheritance pattern – AD with mutation in PKD gene. 2/13/2018 10 SUNIL KUMAR.P

11. PKD-1 gene located on chromosome 16 in over 85% cases (ADPKD-1). While reminder 15% cases have mutation in PKD-2 gene located on chromosome 4 (ADPKD-2) 2/13/2018 11 SUNIL KUMAR.P

12. 2/13/2018 12 SUNIL KUMAR.P

13. 2/13/2018 13 SUNIL KUMAR.P

14. 2/13/2018 14 SUNIL KUMAR.P

15. Pathophysiology The main feature of ADPKD is a bilateral progressive increase in the number of cysts, which may lead to ESRD. Hepatic cysts, cerebral aneurysms, and cardiac valvular abnormalities also may occur. Defect on PKD1 and 2. PKD1 and PKD2 are expressed in most organs and tissues of the human body. The proteins that are encoded by PKD1 and PKD2, polycystin 1 and polycystin 2, seem to function together to regulate the morphologic configuration of epithelial cells. 2/13/2018 15 SUNIL KUMAR.P

16. A decrease in urine-concentrating ability is an early manifestation of ADPKD. The cause is not known. Plasma vasopressin levels are increased; this increase may represent the body's attempt to compensate for the reduced concentrating capacity of the kidneys and could contribute to the development of…. renal cysts, hypertension, and renal insufficiency 2/13/2018 16 SUNIL KUMAR.P

17. 2/13/2018 SUNIL KUMAR.P 17

18. 2/13/2018 SUNIL KUMAR.P 18

19. 2/13/2018 SUNIL KUMAR.P 19

20. 2/13/2018 SUNIL KUMAR.P 20

21. 2/13/2018 SUNIL KUMAR.P 21

22. 2/13/2018 SUNIL KUMAR.P 22

23. 2/13/2018 SUNIL KUMAR.P 23

24. 2/13/2018 SUNIL KUMAR.P 24

25. 2/13/2018 SUNIL KUMAR.P 25

26. 2/13/2018 SUNIL KUMAR.P 26

27. Possible mechanisms of cyst formation in polycystic kidney disease 2/13/2018 27 SUNIL KUMAR.P

28. SIGNS and Symptoms 2/13/2018 28 SUNIL KUMAR.P

29. Clinical Features - ABD Pain. Dull aching and an uncomfortable sensation of heaviness. Hematuria Proteinuria Polyuria Hypertension Intracranial berry aneurysms subarachnoid hemorrhages Nodular hepatomegaly Palpable, bilateral flank masses pyelonephritis Nephrolithiasis and renal colic perinephric Hematoma 2/13/2018 29 SUNIL KUMAR.P

30. 2/13/2018 30 SUNIL KUMAR.P

31. 2/13/2018 31 SUNIL KUMAR.P

32. Morphology Gross Examination findings : The kidneys are usually bilaterally ENLARGED and may achieve enormous sizes; weights as high as 4 kg for each kidney have been reported . The external surface appears to be composed solely of a mass of cysts, up to 3 to 4 cm in diameter, with no intervening parenchyma. 2/13/2018 32 SUNIL KUMAR.P

33. The cysts may be filled with a clear, serous fluid or, more usually, with turbid, red to brown, sometimes hemorrhagic fluid. 2/13/2018 33 SUNIL KUMAR.P

34. A and B, Autosomal-dominant adult polycystic kidney disease viewed from the external surface and bisected. The kidney is markedly enlarged and contains numerous dilated cysts 2/13/2018 34 SUNIL KUMAR.P

35. 2/13/2018 SUNIL KUMAR.P 35

36. Microscopic Findings Microscopic Ex…reveals some normal parenchyma dispersed among the cysts. Atrophic lining seen. Occasionally Bowman’ capsule are involved in cyst formation. In these cases, glomerular tufts may be seen within the cystic space. Ischemic atrophy of the intervening renal substance noted. Evidence of superimposed hypertension or infection common 2/13/2018 36 SUNIL KUMAR.P

37. 2/13/2018 SUNIL KUMAR.P 37

38. 2/13/2018 SUNIL KUMAR.P 38

39. 2/13/2018 SUNIL KUMAR.P 39

40. PKD 2/13/2018 SUNIL KUMAR.P 40

41. 2/13/2018 SUNIL KUMAR.P 41

42. Diagnosis Routine laboratory studies include the following: Serum chemistry profile, including calcium and phosphorus CBC count from cysts Urinalysis Urine culture Genetic testing may be performed, in which the major indication is for genetic screening in young adults with negative ultrasonographic findings who are being considered as potential kidney donors. 2/13/2018 42 SUNIL KUMAR.P

43. IMAGING Radiologic studies used in the evaluation of ADPKD include the following: Ultrasonography: Technique of choice for patients with ADPKD and for screening patients' family members; useful for exploring abdominal extrarenal features of ADPKD (eg, liver cysts, pancreatic cysts) 2/13/2018 43 SUNIL KUMAR.P

44. IMAGING-US Ultrasonographic diagnostic criteria for ADPKD1 are as follows: At least 2 cysts in 1 kidney or 1 cyst in each kidney in an at-risk patient younger than 30 years At least 2 cysts in each kidney in an at-risk patient aged 30-59 years At least 4 cysts in each kidney for an at-risk patient aged 60 years or older 2/13/2018 44 SUNIL KUMAR.P

45. IMAGING-US Ultrasonographic diagnostic criteria for ADPKD in patients with a family history but unknown genotype are as follows: Three or more (unilateral or bilateral) renal cysts in patients aged 15-39 years Two or more cysts in each kidney in patients aged 30-59 years 2/13/2018 45 SUNIL KUMAR.P

46. MANAGEMENT No specific medication is available for ADPKD. However, pharmacotherapy is necessary to accomplish the following: Control blood pressure: Drugs of choice are ACEIs or ARBs Control abnormalities related to renal failure Treat urinary tract infections Treat cyst infections: Gyrase inhibitors (eg, ciprofloxacin, chloramphenicol, clindamycin , levofloxacin ); dihydrofolic acid inhibitors (TMX/SMP) Treat hematuria: Possibly analgesic plus copious oral hydration Reduce abdominal pain produced by enlarged kidneys Prevent cardiac valve infection in patients with intrinsic valve disease 2/13/2018 46 SUNIL KUMAR.P

47. Mx -SURGICAL OPTION Surgical intervention in ADPKD includes the following Surgical drainage Open-/ fiberoptic -guided surgery Nephrectomy Partial hepatectomy Liver transplantation 2/13/2018 47 SUNIL KUMAR.P

48. MANAGEMENT • Patients with ADPKD who progress to end stage renal disease may require the following procedures: Hemodialysis Peritoneal dialysis Renal transplantation 2/13/2018 48 SUNIL KUMAR.P

49. Summary PCKD 12.5 mill people. Two types: ADPKD and ARPKD ADPKD most common,asymptomatic to >30 Sx:Pain,hematuria,HTN,palpable kidneys with nodular surface,nodular hepatomegally , berry aneurysm and mitral valve prolapse can occur. Dx:Family Hx,clinical findings and US exam. No specific medication available 2/13/2018 49 SUNIL KUMAR.P

50. 2/13/2018 50 SUNIL KUMAR.P