Universität zu Köln

Kaufeld, Jessica, Weber, Lutz T., Kurschat, Christine, Canaan-Kuehl, Sima, Brand, Eva, Oh, Jun and Pape, Lars (2018). Cystinosis. Diagnosis, cystine-depleting therapy, and transition. Internist, 59 (8). S. 861 - 868. NEW YORK: SPRINGER. ISSN 1432-1289

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Abstract

This article presents a case of cystinosis in a young man. Diagnosis of the disease and the problem of transition to adult care are described. Cystinosis is a rare lysosomal storage disease with first manifestation in early childhood presenting as renal Fanconi syndrome. Without treatment, the disease leads to severe health impairment. Due to the rarity of the disease, a correct diagnosis is often delayed. Without treatment, cystinosis often leads to end-stage renal failure, blindness, hypothyroidism, diabetes mellitus, and rickets. Cystine-depleting therapy with cysteamine significantly improves mortality and quality of life.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kaufeld, Jessica UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Kurschat, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Canaan-Kuehl, Sima UNSPECIFIED UNSPECIFIED UNSPECIFIED Brand, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Oh, Jun UNSPECIFIED UNSPECIFIED UNSPECIFIED Pape, Lars UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-178669
DOI:	10.1007/s00108-018-0416-3
Journal or Publication Title:	Internist
Volume:	59
Number:	8
Page Range:	S. 861 - 868
Date:	2018
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1432-1289
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language RELEASE CYSTEAMINE BITARTRATE; NEPHROPATHIC CYSTINOSIS; CHILDREN; DISEASE; LIFE Multiple languages Medicine, General & Internal Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/17866