Universität zu Köln

Pape, L., Pape, A., Weber, L. T., Arbeiter, K., Haffner, D., Toenshoff, B. and Oh, J. (2017). Cystinosis. Diagnostics and therapy of a rare multisystem disease with renal focus. Nephrologe, 12 (3). S. 223 - 230. CHAM: SPRINGER INTERNATIONAL PUBLISHING AG. ISSN 1862-0418

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Abstract

Cystinosis is a rare, multisystem lysosomal storage disorder, which is first manifested in early childhood as renal Fanconi syndrome. In Germany, there are approximately 200 patients with this disease and without treatment the disease leads to severe health impairment. Due to the rarity of the disease and the initially unspecific symptoms, a correct diagnosis is often greatly delayed. Without treatment cystinosis often leads to end-stage renal failure, blindness, hypoparathyroidism, diabetesmellitus and rickets. So far no curative therapy is available; however, cystine-depleting therapy with cysteamine has been shown to greatly improve the life expectation and quality of life. An early and consistent cysteamine therapy can reduce the progression of the multiorgan disease, so that most patients now survive childhood and can be transferred into adult care. Consequently, non-adherence often occurring in adolescence and due to the side effects of cysteamine therapy, lead to impaired health of patients with cystinosis during transition to adult medicine. Due to the rarity of the diseasemany nephrologists are not well acquainted with the symptoms of the disease; therefore, continuing education of patients, families and physicians as well as newly structured, integrated care of patients with cystinosis are desirable for a significant improvement in care.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Pape, L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Pape, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, L. T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Arbeiter, K. UNSPECIFIED UNSPECIFIED UNSPECIFIED Haffner, D. UNSPECIFIED UNSPECIFIED UNSPECIFIED Toenshoff, B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Oh, J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-231456
DOI:	10.1007/s11560-017-0152-z
Journal or Publication Title:	Nephrologe
Volume:	12
Number:	3
Page Range:	S. 223 - 230
Date:	2017
Publisher:	SPRINGER INTERNATIONAL PUBLISHING AG
Place of Publication:	CHAM
ISSN:	1862-0418
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language RELEASE CYSTEAMINE BITARTRATE; NEPHROPATHIC CYSTINOSIS; CHILDREN; LIFE Multiple languages Urology & Nephrology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23145