Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency.
J Pediatr Endocrinol Metab
; 33(7): 957-961, 2020 Jul 28.
Article
in En
| MEDLINE
| ID: mdl-32623377
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Glycogen Storage Disease Type I
/
Glucose-6-Phosphatase
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
J Pediatr Endocrinol Metab
Journal subject:
ENDOCRINOLOGIA
/
PEDIATRIA
Year:
2020
Document type:
Article
Affiliation country:
Turquía