Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency
-
Pınar Gur Cetinkaya
,
Deniz Cagdas
,
Tugba Arikoglu
,
Fatma Gumruk
und
Ilhan Tezcan
Abstract
Objectives
Severe congenital neutropenia (SCN) is a primary immunodeficiency (PID) characterized by persistent severe neutropenia, recurrent infections, and oral aphthous lesions. Severe congenital neutropenia is caused by various genetic defects such as ELANE, GFI, HAX-1, JAGN1, SRP54, and glucose-6 phosphatase catalytic subunit 3 (G6PC3) deficiency. Clinical features of the patients with G6PC3 deficiency vary from neutropenia to several systemic features in addition to developmental delay.
Case presentation
In this report, we presented three unrelated patients diagnosed with G6PC3 deficiency. All these patients had short stature, prominent and superficial vascular tissue, cardiac abnormalities (Atrial septal defect (secondary), mitral valve prolapse with mitral insufficiency, pulmonary hypertension) and lymphopenia. Patient 1 (P1) and 2 (P2) had urogenital abnormalities, P2 and P3 had thrombocytopenia.
Conclusions
We have shown that lymphopenia and CD4 lymphopenia do not rarely accompany to G6PC3 deficiency. Characteristic facial appearance, systemic manifestions, neutropenia could be the clues for the diagnosis of G6PC3 deficiency.
Research finding: This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
Author contributions: All authors approve the final version of the manuscript and have no conflict of interest to declare.
Competing interests: Authors state no conflict of interest.
Informed consent: The parents/guardians provided written informed consent.
References
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Supplementary Material
The online version of this article offers supplementary material https://doi.org/10.1515/jpem-2019-0541.
© 2020 Walter de Gruyter GmbH, Berlin/Boston
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- Frontmatter
- Review Articles
- Definition and early diagnosis of metabolic syndrome in children
- Cystic fibrosis-related diabetes: an update on pathophysiology, diagnosis, and treatment
- Original Articles
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- Association between eating behavior, anthropometric and biochemical measurements, and peptide YY (PYY) hormone levels in obese adolescents in outpatient care
- Autoimmune hyperthyroidism in children & adolescents in Sudan: a 13 years’ experience of a Paediatric Endocrinology Clinic
- Timing, prevalence, and dynamics of thyroid disorders in children and adolescents affected with Down syndrome
- Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt
- Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)
- Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa
- Growth and metabolic effects of long-term recombinant human growth hormone (rhGH) treatment in short children born small for gestational age: GH-RAST study
- Menstrual cycle, reproductive function, body mass index, and metabolic profiles of women with former central precocious puberty: 10–20-year longitudinal cohort study in southern Thailand
- Letter to the Editors
- European Society of Paediatric Radiology (ESPR) Child Abuse Taskforce Committee: a response to Miller et al.
- The correct formula to calculate triglyceride-glucose index (TyG)
- Case Reports
- Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism
- Improvement in glycaemic parameters using SGLT-2 inhibitor and GLP-1 agonist in combination in an adolescent with diabetes mellitus and Prader-Willi syndrome: a case report
- Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency
- Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism
