eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
 
3/2021
vol. 27
 
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abstract:
Case report

Complex glycerol kinase deficiency – long-term follow-up of two patients

Beata Wikiera
1
,
Aleksandra Jakubiak
2
,
Izabela Łaczmanska
3
,
Anna Noczyńska
1
,
Robert Śmigiel
2

1.
Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Poland
2.
Department of Paediatric, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Poland
3.
Department of Genetics, Wroclaw Medical University, Poland
Pediatr Endocrinol Diabetes Metab 2021; 27 (3): 227–231
Online publish date: 2021/09/30
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Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21. Patients with CGKD present with features characteristic for adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy and sometimes intellectual disability. We present a long-term follow-up of two unrelated boys with molecular diagnosis of complex glycerol kinase deficiency. Genetic examinations in both patients revealed a deletion on Xp21 chromosome including complete deletion of NR0B1 and GK genes. Additionally in patient 2 IL1RAPL1 genes were deleted. In separate MLPA test DMD gene deletion was diagnosed in both patients as follow: in patient 1 whole gene while in patient 2 the C-terminal region of DMD was deleted. Although the first symptom in both was salt loss syndrome, the course of the disease was different for them. We share our experience resulting from the opportunity of caring for patients with this rare disease from the beginning of their life to the end of pediatric care.
keywords:

glycerol kinase deficiency, congenital adrenal hypoplasia, muscular dystrophy



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