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Orphanet Journal of Rare Diseases

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Open Access 01-12-2019 | Obesity | Review

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

Authors: Małgorzata Kałużna, Isabella Trzeciak, Katarzyna Ziemnicka, Maciej Machaczka, Marek Ruchała

Published in: Orphanet Journal of Rare Diseases | Issue 1/2019

Abstract

Background

Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high resting energy expenditures, peripheral insulin resistance, hypoadiponectinaemia, leptin and ghrelin impairments, hypolipidaemia, linear growth deceleration and growth hormone deficiency, delayed puberty, hypocalcaemia and vitamin D deficiency. Specific treatments for GD such as enzyme replacement therapy and substrate reduction therapy display significant effects on the metabolic profile of GD patients.

Main body of the abstract

Hormonal and metabolic disturbances observed in both adult and paediatric patients with Gaucher disease type 1 (GD1) are discussed in this review. The PubMed database was used to identify articles on endocrine and metabolic disorders in GD1. GD1 appears to facilitate the development of disorders of nutrition, glucose metabolism and vitamin D insufficiency. Metabolic and hormonal diseases may have a significant impact on the course of the underlying disease and patient quality of life.

Conclusions

Conditions relating to hormones and metabolism can be wide-ranging in GD1. Obtained findings were intrinsic to GD either as a deleterious process or a compensatory response and some changes detected may represent co-morbidities. Actively seeking and diagnosing endocrine and metabolic disorders are strongly recommended in GD1 patients to optimize healthcare.

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Title: Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review
Authors: Małgorzata Kałużna
Isabella Trzeciak
Katarzyna Ziemnicka
Maciej Machaczka
Marek Ruchała
Publication date: 01-12-2019
Publisher: BioMed Central
Keywords: Obesity
Obesity
Insulins
Vitamin D Deficiency
Malnutrition
Gaucher Disease
Gaucher Disease
Insulins
Gaucher Disease
Published in: Orphanet Journal of Rare Diseases / Issue 1/2019
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-019-1211-5

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

Abstract

Background

Main body of the abstract

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Main body of the abstract

Conclusions

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