Poly cystic kidney disease

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

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

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

4. 2/13/2018 4SUNIL 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 5SUNIL 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 6SUNIL KUMAR.P

7. Polycystic Kidney Disease
2/13/2018 7SUNIL 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 8SUNIL 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 9SUNIL 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 10SUNIL 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 11SUNIL KUMAR.P

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

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

14. 2/13/2018 14SUNIL 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 15SUNIL 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 16SUNIL 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 27SUNIL KUMAR.P

28. SIGNS and Symptoms
2/13/2018 28SUNIL 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 29SUNIL KUMAR.P

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

31. 2/13/2018 31SUNIL 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 32SUNIL 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 33SUNIL 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 34SUNIL 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 36SUNIL 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 42SUNIL 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 43SUNIL 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 44SUNIL 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 45SUNIL 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 46SUNIL 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 47SUNIL 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 48SUNIL 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 49SUNIL KUMAR.P

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