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Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
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.
autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, antenatal, hypomorphic allele
0931-041X
2217-2220
Gilbert, Rodney D.
a60642f2-761a-4a29-acad-2720db1d8ce9
Sukhtankar, Priya
3517e554-255e-442f-89e8-df25530ec927
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
Fowler, Darren J.
1a27c8b0-21bf-48d0-aef3-8aedd3ee1f6f
Gilbert, Rodney D.
a60642f2-761a-4a29-acad-2720db1d8ce9
Sukhtankar, Priya
3517e554-255e-442f-89e8-df25530ec927
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
Fowler, Darren J.
1a27c8b0-21bf-48d0-aef3-8aedd3ee1f6f

Gilbert, Rodney D., Sukhtankar, Priya, Lachlan, Katherine and Fowler, Darren J. (2013) Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatric Nephrology, 28 (11), 2217-2220. (doi:10.1007/s00467-013-2484-x). (PMID:23624871)

Record type: Article

Abstract

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.

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More information

e-pub ahead of print date: 28 April 2013
Published date: November 2013
Keywords: autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, antenatal, hypomorphic allele
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 352086
URI: http://eprints.soton.ac.uk/id/eprint/352086
ISSN: 0931-041X
PURE UUID: b0ea1b6f-1af2-4ef3-8db4-68fde89e056d

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Date deposited: 01 May 2013 11:37
Last modified: 07 Jan 2022 21:27

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Contributors

Author: Rodney D. Gilbert
Author: Priya Sukhtankar
Author: Katherine Lachlan
Author: Darren J. Fowler

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