Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
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Ayse Kilic
,
Merve Emecen Sanli
,
Ekin Ozsaydı Aktasoglu
Abstract
Objectives
Gaucher disease (GD) is a lysosomal storage disease caused by glucocerebrosidase (GCase) enzyme deficiency. Gaucher cells transformed from the macrophages by progressive sphingolipid accumulation and infiltrate bone marrow, spleen, liver, and other organs. The accumulation of substrate causes inflammation, compromised cellular homeostasis, and disturbed autophagy. It has been hypothesized that this proinflammatory state of GD leads cytokines and chemokines release. As a result of inflammatory process, the cellular dysfunction caused by disruption of cellular signaling, organelle dysfunction, or autoimmune antibodies may affect endocrine profile of GD patients such as hormone levels, lipid profile, and bone mineral density status.
Methods
A total of 13 patients confirmed to have GD, 12 non-neuronopathic type and one subacute neuronopathic type, were enrolled in our study.
Results
The median treatment duration in the enzyme therapy was 13.33 years (9–26 years). At least one endocrinological abnormality was detected in blood tests of nine patients. Hyperinsulinism was the most common finding although fasting blood glucose levels HgbA1c levels were normal in all patients. Two patients had osteopenia, and osteoporosis was detected in two patients. Low HDL levels were detected in six patients, but HDL levels below 23 mg/dL associated with disease severity have been detected in two patients who have not receiving enzyme replacement therapy. None of patients had thyroidal dysfunction.
Conclusions
This study had revealed endocrinological abnormalities in GD patients that have not led any severe morbidity in our patients. However, thyroid hormone abnormalities, insulin resistance, or lipid profile abnormalities may cause unpredictable comorbidities. Endocrinological assessment in GD patients in routine follow-up may prevent possible clinical manifestation in long term as well as can define efficacy of ERT on endocrine abnormalities.
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Research ethics: The study was conducted in accordance with the Declaration of Helsinki (as revised in 2013). Ethics Committee approval was obtained from Gazi University, Ankara, Turkey (No: 2020.09.614).
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Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: All other authors state no conflict of interest.
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Research funding: None declared.
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Data availability: The raw data can be obtained on request from the corresponding author.
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology
- Original Articles
- Does an episode of diabetic ketoacidosis affect thyroid function tests in pediatric patients?
- Association between proinflammatory cytokines and arterial stiffness in type 1 diabetic adolescents
- Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
- Diurnal 11-ketotestosterone and 17-hydroxyprogesterone saliva profiles in paediatric classical congenital adrenal hyperplasia
- Growth after pediatric kidney transplantation: a 25-year study in a pediatric kidney transplant center
- Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities
- Evaluation of copeptin in children after stimulation with clonidine or L-Dopa
- Examination of quality of life and psychiatric symptoms in childhood Graves’ disease
- Timing of onset of menses after GnRH agonist treatment for central precocious puberty
- Implementation of the Mind Youth Questionnaire (MY-Q) for routine health-related quality of life screening of adolescents with type 1 diabetes in a large tertiary care center
- Case Reports
- Medulloblastoma in a child with osteoma cutis – a rare association due to loss of GNAS expression
- Ectopic lingual thyroid with subclinical hypothyroidism in children
- Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
- A 14-year-old girl with premature ovarian insufficiency but with a positive pregnancy test
Artikel in diesem Heft
- Frontmatter
- Review
- Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology
- Original Articles
- Does an episode of diabetic ketoacidosis affect thyroid function tests in pediatric patients?
- Association between proinflammatory cytokines and arterial stiffness in type 1 diabetic adolescents
- Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
- Diurnal 11-ketotestosterone and 17-hydroxyprogesterone saliva profiles in paediatric classical congenital adrenal hyperplasia
- Growth after pediatric kidney transplantation: a 25-year study in a pediatric kidney transplant center
- Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities
- Evaluation of copeptin in children after stimulation with clonidine or L-Dopa
- Examination of quality of life and psychiatric symptoms in childhood Graves’ disease
- Timing of onset of menses after GnRH agonist treatment for central precocious puberty
- Implementation of the Mind Youth Questionnaire (MY-Q) for routine health-related quality of life screening of adolescents with type 1 diabetes in a large tertiary care center
- Case Reports
- Medulloblastoma in a child with osteoma cutis – a rare association due to loss of GNAS expression
- Ectopic lingual thyroid with subclinical hypothyroidism in children
- Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus
- A 14-year-old girl with premature ovarian insufficiency but with a positive pregnancy test
