Here are some key points from a recent
BMJ review:
What is it?
It is an inherited
condition characterized by pathologic development of multiple renal
cysts leading to enlargement and dysfunction.
What are the genetics?
Classic autosomal
dominance. However, some patients will not have a family history, as
6-8% of cases represent de novo mutations. The mutation involves one
of two identified genes.
The variable clinical spectrum is
not fully explained.
This is in part
due to there being two separate gene mutations. However, within a
given mutation there is considerable variation in severity.
There is a wide array of renal
manifestations.
Urinary
concentrating impairment is an early manifestation. Episodic
hematuria and cyst hemorrhage may occur and generally resolve in a
matter of days. Cyst infection is complicated and requires prolonged
antibiotic treatment with a lipid permeable agent. Hypertension is
common and may be the initial presenting clinical feature. The
median age of onset of ESRD is 55 but is quite variable.
What are the extrarenal
manifestations?
Polycystic liver
disease is seen in 80% of adults. Biliary tract compression,
cholangitis, and cyst infection may occur but synthetic function
generally remains unaffected. Cysts in other organs may occur but
tend to be clinically insignificant. The prevalence of cerebral
aneurysms is 8-12%.
Diagnostic criteria are based on
family history and the number of cysts as a function of age.
Genetic testing
may be indicated in limited circumstances.
What treatments are recommended to
slow the progression?
Aggressive BP
control with ACEIs and ARBs may help but tolvaptan is a recently
emerging treatment which is supported by the best evidence.
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