Universität zu Köln

Ebner, Kathrin, Reintjes, Nadine, Feldkoetter, Markus, Koerber, Friederike, Nagel, Mato, Doetsch, Joeg, Hoppe, Bernd, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome. Clin. Nephrol., 88 (1). S. 45 - 52. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

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Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of dialysis-requiring end-stage renal disease in adults and is characterized by the slowly progressing replacement of renal tissue by focal macrocysts. Alport syndrome (AS; hereditary nephritis) is a rare, inherited disorder of the basement membrane associated with hematuria, proteinuria, and loss of kidney function as well as sensorineural hearing loss and ocular abnormalities. Here, we report on a family in which both ADPKD and AS are present. In a male patient, both - ADPKD and AS coincided. This patient shows the very rare coexistence of two severe, inherited renal disorders and illustrates the importance of considering additional diagnoses in the setting of positive family history for a common hereditary disorder.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ebner, Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Reintjes, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Feldkoetter, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Koerber, Friederike UNSPECIFIED UNSPECIFIED UNSPECIFIED Nagel, Mato UNSPECIFIED UNSPECIFIED UNSPECIFIED Doetsch, Joeg UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoppe, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz Thorsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Liebau, Max Christoph UNSPECIFIED orcid.org/0000-0003-0494-9080 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-226525
DOI:	10.5414/CN109123
Journal or Publication Title:	Clin. Nephrol.
Volume:	88
Number:	1
Page Range:	S. 45 - 52
Date:	2017
Publisher:	DUSTRI-VERLAG DR KARL FEISTLE
Place of Publication:	DEISENHOFEN-MUENCHEN
ISSN:	0301-0430
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DOMINANT POLYCYSTIC KIDNEY; GLOMERULAR-FILTRATION-RATE; LEFT-VENTRICULAR MASS; DISEASE PROGRESSION; PREDICTORS; CHILDREN; VOLUME; COOCCURRENCE; MECHANISMS; DIAGNOSIS Multiple languages Urology & Nephrology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22652