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Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Risk Factors for Disease Progression

Purpose: To identify a patient with autosomal dominant polycystic kidney disease (ADPKD) who is at risk for early progression to end-stage renal disease.

Description

A patient with the autosomal dominant form of polycystic kidney disease (ADPKD) may be more likely to develop end-stage renal disease if certain risk factors are present. A patient without risk factors may live into old age with some preserved renal function.


 

Risk factors for more rapid deterioration in renal function (disease progression):

(1) disease associated with a genetic mutation in PKD1 (on 16p13.3, as opposed to mutation in other genes)

(2) male gender

(3) Afro-American race

(4) hypertension in nonaffected parent

(5) onset of hypertension at an early age

(6) proteinuria

(7) kidneys large in size (on ultrasonography or other imaging study)

(8) sickle cell trait

(9) hypercholesterolemia

(10) angiotensin converting enzyme (ACE) DD polymorphism

(11) gross hematuria in men or more than 3 pregnancies in women

(12) diagnosis in utero or in the first month after birth

 

where:

• The angiotensin converting enzyme (ACE) gene may occur as 3 different combinations of insertion (I) and deletion (D) alleles - II, ID and DD. Patients with the DD polymorphism and ADKPD may have a worse renal prognosis with onset of end-stage renal disease before the age of 50 years.

 


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Specialty

Objective

ICD-10