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Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
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Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
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Journal Article
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
2013
Overview
Background
Dominant polycystic kidney disease is common and usually presents clinically in adulthood. Recessive polycystic kidney disease is much less common and frequently presents antenatally or in the neonatal period with severe renal involvement. These are usually thought of as clinically distinct entities but diagnostic confusion is not infrequent.
Case-diagnosis/treatment
We describe an infant with antenatally diagnosed massive renal enlargement and oligohydramnios with no resolvable cysts on ultrasound scanning. He underwent bilateral nephrectomy because of respiratory compromise and poor renal function but died subsequently of overwhelming sepsis. Genetic analysis revealed that he had bilineal inheritance of abnormalities of
PKD1
and no demonstrable abnormalities of
PKD2
or
PKHD1
.
Conclusions
Biallelic inheritance of abnormalities of
PKD1
may cause extremely severe disease resembling autosomal dominant polycystic kidney disease (ADPKD) which can result in diagnostic confusion. Accurate diagnosis is essential for genetic counseling.
Publisher
Springer Berlin Heidelberg,Springer,Springer Nature B.V
