Urinary tract effects of HPSE2 mutations.

Autor:	Stuart HM; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Roberts NA; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Hilton EN; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, McKenzie EA; Faculty of Life Sciences and., Daly SB; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Hadfield KD; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Rahal JS; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Gardiner NJ; Faculty of Life Sciences and., Tanley SW; Faculty of Engineering and Physical Sciences, University of Manchester, Manchester, United Kingdom;, Lewis MA; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Sites E; Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois;, Angle B; Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois;, Alves C; Genetica Med. e Diagnostico Pre-Natal, Prof. Sergio Castedo, S.A., Porto, Portugal;, Lourenço T; Department of Medical Genetics, Hospital de Dona Estefânia, Lisboa, Portugal;, Rodrigues M; Department of Medical Genetics, Hospital de Dona Estefânia, Lisboa, Portugal;, Calado A; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Amado M; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Guerreiro N; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Serras I; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Beetz C; Faculty of Life Sciences and Faculty of Life Sciences and., Varga RE; Faculty of Life Sciences and Faculty of Life Sciences and., Silay MS; Department of Urology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey;, Darlow JM; National Centre for Medical Genetics and National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Dobson MG; National Centre for Medical Genetics and National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Barton DE; National Centre for Medical Genetics and School of Medicine and Medical Sciences and., Hunziker M; National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Puri P; National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland; School of Medicine and Medical Sciences and Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland;, Feather SA; Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom;, Goodship JA; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Goodship TH; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Lambert HJ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Cordell HJ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Saggar A; Department of Clinical Genetics, St George's, University of London, London, United Kingdom;, Kinali M; Department of Paediatric Neurology, Chelsea and Westminster Hospital and Imperial College London, and Bupa Cromwell Hospital, London, United Kingdom;, Lorenz C; Department of Pediatric Surgery and Urology, Klinikum Bremen-Mitte, Bremen, Germany;, Moeller K; Department of Pediatrics, Klinikum Links der Weser, Bremen, Germany;, Schaefer F; Division of Paediatric Nephrology, Centre for Paediatric and Adolescent Medicine, University Hospital of Heidelberg, Im Neuenheimer Feld, Heidelberg, Germany;, Bayazit AK; Pediatric Nephrology, Cukurova University School of Medicine, Adana, Turkey; and., Weber S; Pediatrics II, University Children's Hospital Essen, Essen, Germany., Newman WG; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Woolf AS; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom; adrian.woolf@manchester.ac.uk.
Jazyk:	angličtina
Zdroj:	Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2015 Apr; Vol. 26 (4), pp. 797-804. Date of Electronic Publication: 2014 Aug 21.
DOI:	10.1681/ASN.2013090961
Abstrakt:	Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies contained heparanase 1, heparanase 2, and leucine-rich repeats and immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families. In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS. (Copyright © 2015 by the American Society of Nephrology.)
Databáze:	MEDLINE
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