Autosomal Dominant Polycystic Kidney
Disease (ADPKD)
You are a third year Family Medicine resident working
in the OBGYN department. While seeing patients in the
Ultrasound unit, a pregnant woman is noted to have a fetus
with bilateral cystic kidneys. No other structural malformations
are noted. The renal cysts are of variable shape and size,
and there are no cysts seen in the fetal liver or brain.
You are asked to take a family history from this patient,
and to draw a three-generation pedigree. The family
history is positive for hypertension in several members
on the patient’s side of the family. Her husband’s
family history is negative. With this information, you
consider renal cystic disease – adult PKD in the
differential. However, you do not recall the differences
between the adult form and infantile PKD.
To assist in providing information to this family,
you go to OMIM.
Go to OMIM:
- Search the OMIM database for: ADPKD
- Look up clinical synopsis, text, genetic defect
and treatment of ADPKD gene.
The patient has several questions about the prognosis
for her affected child. She also is concerned about
the recurrence risk in her family, and whether any other
members of the family are at risk. She asks you what
diagnostic tests should be performed in other family
members.
You obtain information about genetic testing for Autosomal
Dominant Polycystic Kidney Disease (ADPKD) from an on-line
resource (www.genetests.org).
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