| A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy |
|
Dae-Won Shin1, Jun Huh1, Hong-Jin Lee1, Won-Ill Park1, Kyung-Ja Lee1, Yoon-Sook Shin2, D.R. Sjarif3, B.T. Poll-The3 |
1Department of Pediatrics, College of Medicine, Hallym University, Chunchon, Korea
2University Children`s Hospital, Munich, Germany
3Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Netherlands |
| Hyperglycerolemia와 Congenital Adrenal Hypoplasia, Duchenne Muscular Dystrophy가 동반된 Xp21 Contiguous Gene Deletion Syndrome |
|
신대원1, 허 준1, 이홍진1, 박원일1, 이경자1, 신윤숙2, D.R. Sjarif3, B.T. Poll-The3 |
1한림대학교 의과대학 춘천성심병원 소아과
2University Children`s Hospital, Munich, Germany
3Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Netherlands |
|
|
|
|
| Abstract |
|
On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in that region, various combination of genetic defect can be occurred from one kind of genetic defect to all three kinds of genetic defect simultaneously. In case of more than two genetic defects simultaneously, we call it contiguous gene deletion syndrome. The major clinical manifestations of the Xp21 contiguous gene deletion syndrome are sum of each diseases, electrolyte imbalance and hyperpigmentation for adrenal hypoplasia congenita, psychomotor retardation, letharginess and convulsion for glycerol kinase deficiency and muscle weakness and hypotonia for Duchenne muscular dystrophy. Goals of the treatment are control of each disorders, glucocorticoid and mineralocorticoid for adrenal hypoplasia congenita, low fat diet and prevention of fasting and hypercatabolic status for glycerol kinase deficiency and physiotherapy for Duchenne muscular dystrophy. In case of hyponatremia and hyperkalemia combined with hyperpigmentation, adrenal hypoplasia congenita could be suspected. In glycerol kinase deficiency, markedly elevated glycerol excretion can be detected on urine organic acid analysis by gaschromatography with mass spectrometry. On Duchenne muscular dystrophy, creatinine kinase is markedly elevated on chemistry. We report here first Korean case of Xp21 contiguous gene deletion syndrome of adrenal hypoplasia congenita, glycerol kinase deficiency and Duchenne muscular dystrophy. |
| Key Words:
Hyperglycerolemia, Hyperglyceroluria, GKD(Glycerol kinase deficiency), CAH(Congenital adrenal hypoplasia), DMD(Duchenne muscular dystrophy) |
|
PDF Links
Download Citation
