This document discusses polycystic kidney disease (PKD), specifically autosomal dominant polycystic kidney disease (ADPKD). It defines ADPKD as a genetic disorder caused by mutations in PKD1 and PKD2 genes, characterized by multiple bilateral renal cysts and cysts in other organs. Symptoms may include abdominal or flank pain, hematuria, hypertension, enlarged kidneys with nodular surfaces, and liver cysts. Diagnosis involves family history, clinical examination, and ultrasound evaluation of the kidneys. While there is no specific treatment, management focuses on blood pressure control, treating infections, reducing pain, and renal replacement therapies like dialysis or transplantation for end-stage renal 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