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Autosomal Dominant Polycystic Kidney Disease P012

Document
Last amended 
29 June 2015
Current RMA Instruments:
Reasonable Hypothesis SOP
39 of 2015
Balance of Probabilities SOP
40 of 2015
Changes from Previous Instruments:

SOP Bulletin 179

ICD Coding:
  • ICD-9-CM Codes: 753.13
  • ICD-10-AM Codes: Q61.2

This is a genetic disorder of the kidney resulting in the development of multiple bilateral renal cysts and resulting renal damage. Also known as polycystic kidney disease.  

Is specific diagnostic evidence required to apply the SOP? – Yes. 

This diagnosis is based on neprhologist opinion with recourse to MRI scan, ultrasound imaging of the kidneys, intravenous pyelogram, renal function testing, and genetic testing.

Are there sub-factors that require specific information? – No.

The only factor is for clinical worsening from inability to obtain appropriate clinical management.  It is difficult to ascertain a clinical worsening given the progressive nature of the disorder.  See notes below.

Additional diagnoses covered by SOP
  • Nil
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then seek medical officer advice about further investigation.

Notes on appropriate clinical management

Natural progression of the disease varies with the phenotype.  Worsening beyond the normal progression of the disease needs to be evident before a clinical worsening factor can be considered.

No specific treatment has been proven to prevent or delay progression of ADPKD with the current treatment being nonspecific measures, such as strict blood pressure control, dietary protein restriction, a low-salt diet, and statins, which may prevent progression of disease and reduce cardiovascular mortality. (1)

In most patients, renal function remains intact until the fourth decade of life but once the glomerular filtration rate (GFR) starts to decline, the average reduction is 4.4 to 5.9 mL/min per year.  Most patients with ADPKD die from cardiac causes.  Risk factors that have been identified for progressive renal disease in ADPKD include: (1)

  • Genetic factors (PKD1 versus PKD2)
  • Hypertension
  • Early onset of symptoms including proteinuria and hematuria
  • Male gender
  • Increased kidney size (kidney size is greater with PKD1 mutations)
  • Increased left ventricular mass index
  • Dipstick detectable proteinuria
  • Low birth weight
  • Decreased renal blood flow
  • Increased urinary sodium excretion

Footnotes:

(1) Chapman, A., Rahbari-Oskoui, F, and Bennett, W. 2014, ‘Course and treatment of autosomal dominant polycystic kidney disease’, UpToDate, http://www.uptodate.com/contents/course-and-treatm...