Universität zu Köln

Hoyer-Kuhn, H., Rehberg, M. and Semler, O. (2017). Hereditary skeletal diseases. Special aspects of diagnostics, treatment and transition. Mon.schr. Kinderheilkd., 165 (8). S. 663 - 672. NEW YORK: SPRINGER. ISSN 1433-0474

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Abstract

Hereditary skeletal disorders are rare but have a huge impact on patients and require a multidisciplinary medical care. A differentiation is made between diseases affecting bone matrix production (e. g. osteogenesis imperfecta) and those with defects in mineralization. The latter are separated into those where insufficient substrate is available (e. g. rickets) and those with a diminished function of alkaline phosphatase (e. g. hypophosphatasia). The diagnostics of diseases affecting collagen formation are mainly based on the clinical findings and radiographs, in comparison to mineralization defects where laboratory findings are important. Due to the complexity and diversity of the symptoms, therapy has to be undertaken by a multidisciplinary team coordinating all forms of treatment. For pediatric patients this is mostly localized in Sozial Padiatrischen Zentren. In most cases the medical treatment is purely symptomatic and the drugs used are neither approved nor internationally standardized; therefore, the off-label treatment should be conducted in specialized centers. The needs of patients are different during transition because in cases of synthesis defects with the culmination of growth and puberty a long period with few complaints begins and consequently a lack of contact with physicians, resulting in a loss of continuity of medical care. In contrast patients with mineralization defects need continuous medical care and there is a closer association with physicians; however, there are only relatively few physicians specialized in the treatment of adults and interdisciplinary treatment is not well established. A treatment structure similar to that in Sozial Padiatrischen Zentren would be desirable and in the future could be achieved by Centers for Rare Diseases.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hoyer-Kuhn, H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Rehberg, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, O. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-223259
DOI:	10.1007/s00112-017-0321-1
Journal or Publication Title:	Mon.schr. Kinderheilkd.
Volume:	165
Number:	8
Page Range:	S. 663 - 672
Date:	2017
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1433-0474
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language X-LINKED HYPOPHOSPHATEMIA; OSTEOGENESIS IMPERFECTA; CHILDREN; TRIAL; CARE Multiple languages Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22325