| Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. | |
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MedLine Citation:
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PMID: 15372515 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We observed the occurrence of congenital nephrotic syndrome (CNS) and distinct ocular anomalies in two unrelated families. Eleven children from both families presented with a similar course of renal disease starting with nephrotic syndrome and renal failure prenatally or immediately after birth that resulted in death before the age of 2 months. Kidney histopathology showed diffuse mesangial sclerosis (DMS). Clinically obvious eye abnormalities were recognized in six of the eight patients in whom sufficient clinical data were available. Ocular anomalies included enlarged or large appearing corneae in some cases suggesting buphthalmos, and extremely narrow, nonreactive pupils (microcoria). Pathological examination of the eyes of two aborted fetuses revealed a more complex ocular maldevelopment including posterior lenticonus as well as anomalies of cornea and retina. On the basis of these observations and other cases in the literature, we delineate a previously unrecognized distinct entity characterized by congenital nephrotic syndrome, DMS, and eye abnormalities with microcoria as the leading clinical feature. Pedigrees of affected families with parental consanguinity support autosomal recessive inheritance. We propose that this syndrome should be designated microcoria-congenital nephrosis syndrome or Pierson syndrome. Possible overlap with Galloway-Mowat syndrome and relations to other oculo-renal syndromes are discussed. |
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Authors:
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Martin Zenker; Tim Tralau; Thomas Lennert; Susanne Pitz; Karlheinz Mark; Henry Madlon; Jörg Dötsch; André Reis; Horst Müntefering; Luitgard M Neumann |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 130A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2004 Oct |
Date Detail:
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Created Date: 2004-09-21 Completed Date: 2005-02-08 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 138-45 Citation Subset: IM |
Affiliation:
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Institute of Human Genetics, University of Erlangen, 91054 Erlangen, Germany. mzenker@humgenet.uni-erlangen.de |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology* Consanguinity Eye Abnormalities* Family Health Fatal Outcome Female Genes, Recessive / genetics Glomerular Mesangium / pathology* Humans Infant Infant, Newborn Male Necrosis Nephrosis / congenital, pathology* Pedigree Pupil Disorders / pathology* Syndrome Turkey |
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