[P2-187] Xp21 contiguous gene deletion syndrome: cases report and literature review
[Introduction] Xp21 contiguous gene deletion syndrome is a rare reported disease，especially in China. Clinically it was always misdiagnosed as one kind of disease. Here we report four cases with this rare disease.
[Methodology] The clinical data of four patients with Xp21 contiguous gene deletion syndrome diagnosed between May 2007 and October 2015 were collected. By searching at databases, we summarized the clinical characteristics, diagnosis, treatment and prognosis of Chinese patients, and made a comparison with the cases reported internationally.
[Results] Combined with the cases in our study, a total of nine cases (all males) of Xp21 contiguous gene deletion syndrome were reported in China. The onset age ranges from 0 to 2.5 years old. All of them were diagnosed with complex Glycerol kinase deficiency, eight patients with AHC-GKG-DMD phenotype, and one patient with GKG-DMD phenotype. All patients had high serum creatine kinase, urine glycerol and developmental delay. In follow-up study, six patients (66.7%) died of Adrenocortical crisis. 120 cases with Xp21 contiguous gene deletion syndrome were reported internationally, onset age ranges from 0 to 57 years old. 91.7% of them has Complex glycerol kinase deficiency, others include DMD-CGD-XK-RPGR syndrome, DMD-CGD-XK syndrome, and so on. Majorities had developmental delay and 17(15.5%) patients died of adrenal hypoplasia in early days.
[Conclusions] The clinical manifestations and onset symptoms of Xp21 contiguous gene deletion syndrome in China is consistence with cases reported internationally. For the lack of regular treatment and follow-up study in China, the mortality is higher than cases reported abroad.
[Methodology] The clinical data of four patients with Xp21 contiguous gene deletion syndrome diagnosed between May 2007 and October 2015 were collected. By searching at databases, we summarized the clinical characteristics, diagnosis, treatment and prognosis of Chinese patients, and made a comparison with the cases reported internationally.
[Results] Combined with the cases in our study, a total of nine cases (all males) of Xp21 contiguous gene deletion syndrome were reported in China. The onset age ranges from 0 to 2.5 years old. All of them were diagnosed with complex Glycerol kinase deficiency, eight patients with AHC-GKG-DMD phenotype, and one patient with GKG-DMD phenotype. All patients had high serum creatine kinase, urine glycerol and developmental delay. In follow-up study, six patients (66.7%) died of Adrenocortical crisis. 120 cases with Xp21 contiguous gene deletion syndrome were reported internationally, onset age ranges from 0 to 57 years old. 91.7% of them has Complex glycerol kinase deficiency, others include DMD-CGD-XK-RPGR syndrome, DMD-CGD-XK syndrome, and so on. Majorities had developmental delay and 17(15.5%) patients died of adrenal hypoplasia in early days.
[Conclusions] The clinical manifestations and onset symptoms of Xp21 contiguous gene deletion syndrome in China is consistence with cases reported internationally. For the lack of regular treatment and follow-up study in China, the mortality is higher than cases reported abroad.