MAn with Loin pain and Haematuria

Saturday, March 20, 2010
37 year old male patient was admitted to the Surgery ward complaining of abdominal and loin pain and haematuria for 2 days duration.No fever or Dysuria.
He was not pale.His blood Pressure was 180/110mmhg.On abdominal examination this patient,two ballotable masses found in both sides.
Ultrasonography of the patient is given here.



What is the Diagnosis?


ANSWER

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


Polycystic kidney disease (PKD)also known as polycystic kidney syndrome is a genetic disorder characterized by the growth of numerous cysts in the both kidneys


PKD cysts can profoundly enlarge the kidneys while replacing much of the normal structure, resulting in reduced kidney function and leading to kidney failure.


PKD can also cause cysts in the liver ,the pancreas,blood vessels in the brain(intracranial berry aneurysms) and heart


Two major inherited forms of PKD exist:


Autosomal recessive PKD 
  • Is a rare inherited form. 
  • Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.




AUTOSOMAL DOMINANT PKD


  • Is the most common inherited form.
  • About 90% of all PKD cases are autosomal dominant PKD.
  • Important cause of renal failure
  • Mutations in either the PKD-1 or PKD-2 gene
  • Cyst formation begins in utero
  • Cysts arise from the tubules throughout the nephrons but initially, involve only a portion of them
  • Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood.
  • Autosomal dominant PKD is asymptomatic for several tears and hence it is often called “adult polycystic kidney disease"

CLINICAL FEATURES

  1. Abdominal pain and early satiety and gastroesophageal reflux symptoms - due to mass effect of enlarging kidneys
  2. Loin and back pain
  3. Gross Hematuria
  4. Symptoms of UTI
  5. Hypertension
  6. Features of uraemia
  7. Palpable, bilateral abdominal masses

COMPLICATIONS

* Urinary tract infections—specifically, in the kidney cysts


* Liver and pancreatic cysts


* Abnormal heart valves


* High blood pressure


* Kidney stones


* Ureamia


*Intracranial berry aneurysms - subarachnoidal hemorrhage


* Diverticulosis—small pouches bulge outward through the colon


*Thoracic aortic aneurisms

INVESTIGATIONS

Ultrasonography - highly sensitive


Before the age of 30 years, CT scan or T2-weighted MRI is more sensitive


  • Diagnostic Criteria


In younger patients


  1. Two or more cysts in one kidney
  2. At least one cyst in the contralateral kidney
  3. With a positive family history of the disease
In older patients -four or more cysts


Genetic tests

TREATMENT

Treatment is largely supportive, as there is no single therapy that has been shown to prevent the decline in kidney function


Blood Pressure control(ACE inhibitors or angiotensin II receptor blockers )


Pain management (percutaneous aspiration, sclerotherapy with alcohol or, rarely, surgical drainage)


Lipid-soluble antimicrobials for UTI


End-stage renal disease - Dialysis or Transplantation


In patients with ESRD optimizing nutritional status is important.



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18 comments

  1. obstructive nephropathy causing hydronephrosis

    it can be causes in bladder and urethra that obstructing both sided as stones
    or huge abdominal or pelvic masses compressing both ureters from outside

     
  2. Anonymous Says:
  3. polycystic kidney disease

    common presentation, hypertension, ballotable kidney, hematuria, loin pain

    ultrasound show multiple cystic lesion in a kidney

     
  4. Anonymous Says:
  5. polycystic kidney disease

     
  6. Anonymous Says:
  7. renal artey stenosis causn hydronephrosis

     
  8. Anonymous Says:
  9. polycystic kidney disease

     
  10. Anonymous Says:
  11. adult polycystic kidney disease

     
  12. nasiha Says:
  13. polycystic kidney disease

     
  14. almojtahed Says:
  15. Polycystic Kidney disease

     
  16. Anonymous Says:
  17. arash from iran


    polycystic kidney , autosomal dominant type

    drug of choice for PCK dx is ace inhibitor

    they have predposition to infection and drug of choice of their infection is cotrimoxazole

    if in their family , there was any history of SAH or aneurysm or CVA in young age , patient should be worked up for aneurysm by MRI

     
  18. Anonymous Says:
  19. Polycystic Kidney disease

     
  20. Anonymous Says:
  21. polycystic kidney disease
    dr.winzo

     
  22. vikash Says:
  23. polycystic kidney diziz

     
  24. irina Says:
  25. may be polycistosis of kidney(bylateral)

     
  26. Anonymous Says:
  27. polycystic kidney disease

     
  28. Anonymous Says:
  29. polichistoza renala

     
  30. Bobbymurjani Says:
  31. polycistic disease of the kidney

     
  32. Anonymous Says:
  33. how do they get haematuria in PKD?

     
  34. Anonymous Says:
  35. polycystic kidney disease

    sadia

     

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