RESUMEN
To report a case of fructose-1, 6-bisphosphatase deficiency child with delayed diagnosis for seven years, and review the literature. A 13-year-old boy presented with recurrent episodes of hypoglycemia after infection since 6 years old, he also had convulsion and short stature. The laboratory finding revealed ketotic hypoglycemia, lactic acidosis, transient elevated ALT and UA. The genetic analysis showed compound heterozygous mutations of c. 960-961insG and c. 355G> A in FBP1 gene. Among eighteen patients reported in China, 88.9% had convulsion, 16.7% had growth retardation, the average delayed diagnosis spent 2.8 years, which could result in permanent brain damage and high death risk. The most common mutation was c. 960-961insG, followed by c. 355G>A and c. 490G>A, these mutations maybe hot spot sites of FBPl gene in China.
RESUMEN
Objective To explore the clinical effects of calium dobesilate combined with compound thrombosis for patients with diabetic retinopathy due to visual field defect.Methods 112 cases of patients with diabetic retinopathy from February 2014 to February 2016 in our hospital were selected and randomly divided into the observation group and the control group,56 cases in each group.The control group were given compound Xueshuantong, while the observation group were treated with calcium dobesilate orally.And both the two groups were treated for five months.The hemangioma volume , macular thickness, hemorrhagic spot area, visual gray value, visual acuity, CRP, VEGF and IGF-1 levels in two groups were measured before and after treatment, as well as the clinical efficacy and adverse effects during the treatment.Results The total effective rate in the observation group was 94.6%significantly higher than that in the control group 71.4% (P<0.05).After treatment, in the two groups the hemangioma volume, macular thickness, hemorrhagic spot area, visual field gray value, visual acuity and 30°threshold sensitivity were significantly improved (P<0.05),but the improvement in the observation group was more (P<0.05).After treatment, the levels of hs-CRP, VEGF and IGF-1 were all significantly decreased (P<0.05), but the observation group decreased more significantly (P<0.05).Adverse reactions were mainly gastrointestinal reactions, and the incidence of adverse reactions in the two groups had no statistically significant difference.Couclusion Calcium dobesilate combined with compound thrombosis for patients with diabetic retinopathy due to visual field defect can improve the visual field defect of diabetic retinopathy patients.Its clinical effects is better and the safety is higher, which mechanism may be related to reducing the level of inflammatory factors in patients.