Two siblings with Gaucher type 3c: different clinical presentations
-
Miray Karakoyun
,
Ebru Canda
,
Ezgi Kiran Tasci
,
Eser Dogan
,
Mahmut Coker
und
Sema Aydogdu
Abstract
Background
Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation.
Case presentation
We describe two patients who had homozygous D448H mutations. The index patient had hepatosplenomegaly, liver insufficiency and cardiac involvement and her sister had severe cardiac involvement with cardiomyopathy and diffuse aortic calcification. The index case’s liver was transplanted at the age of 6 months from a related donor and her sister who had severe cardiovascular disease died at the age of 12 years.
Conclusions
Our patients had clinical variability. We need to discuss whether liver involvement could be the initial signs in patients with GD type 3c.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed Consent: Written informed consent was obtained from the parents and the patient who participated in this study.
Conflict of interest: There are no conflicts of interest and funding.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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- Case Reports
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Artikel in diesem Heft
- Frontmatter
- Reviews
- Using height-corrected definition of metabolic syndrome in children and adolescents
- Association between early antibiotic exposure and risk of childhood weight gain and obesity: a systematic review and meta-analysis
- Original Articles
- Carbonated beverage consumption is associated with lower C-peptide in adolescents
- Low levels of cardiorespiratory fitness and abdominal resistance are associated with metabolic risk in schoolchildren
- Effect of metformin on clinical and biochemical hyperandrogenism in adolescent girls with type 1 diabetes
- Obesity-related thyroiditis in childhood: relationship with insulin resistance
- An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
- Non-invasive assessment of aortic stiffness and blood pressure in young Turner syndrome patients
- High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening
- The “combined team” transition clinic model in endocrinology results in high adherence rates and patient satisfaction
- Utilizing health information technology to improve the recognition and management of life-threatening adrenal crisis in the pediatric emergency department: medical alert identification in the 21st century
- Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up
- Letter to the Editor
- Growth failure in infancy and early adiposity rebound
- Short Communication
- Clinical utility of stimulation tests in infants with suspected adrenal insufficiency (AI)
- Case Reports
- Two siblings with Gaucher type 3c: different clinical presentations
- Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature
- Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
