摘要
@#【Objective】Through summarizing the clinical manifestations and gene mutations of 5 types of RASopathies in childhood including Neurofibromatosis type1(NF1),Noonan syndrome(NS),Noonan syndrome with multiple lentigines(NSML),Costello syndrome(CS)and cardio-facio-cutaneous syndrome(CFC)and analyzing their commonalities and characteristics,to deepen the clinician′s understanding of the RASopathies and improve the domestic doctors′ diagnosis and treatment level of RASopathies.【Methods】The clinical data and gene mutation types of 11 patients of RASopathies who were diagnosed in Sun Yat- Sen Memorial Hospital from January 2015 to May 2018 were retrospectively analyzed. 【Results】The age of onset ranged from 6 months to 12 years and the main clinical manifestations of 11 patients included: short stature,craniofacial features,congenital heart defect,café-au-lait macules,developmental delay,thrombocytopenia, seizures and dystonia,cryptorchidism,etc. Five gene mutations were detected including NF1 gene,PTPN11 gene, RAF1 gene ,BRAF gene and HRAS gene.【Conclusions】The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/MAPK pathway. The RAS/MAPK pathway plays an important role in regulating growth development,promoting cell proliferation,differentiation,metabolism,and signal transduction of various hormones. Therefore,they share many overlapping characteristics,including craniofacial features,growth retardation,cardiac malformations,cutaneous and musculoskeletal abnormalities,neurocognitive impairment and tumor susceptibility. However ,each RASopathy exhibits different degree phenotypes because of mutations at different points in the pathway. In addition ,tumor susceptibility is one of the typical clinical features of RASopathies. Therefore,tumor monitoring is one of the most important contents in the follow-up process.
摘要
[Objective] To analyze blood lipid and its related factors in Chinese children and adolescents with Turner syndrome.[Methods] The untreated TS patients were divided into two groups according to age (<11 years old and 11~15 years old) and enrolled two groups of age-matched control girls,blood lipid and the incidence of dyslipidemia were compared between the four groups,the related factors of blood lipid were also analyzed.Moreover,TS patients were divided into two groups according to karyotype,including 45,XO karyotype (55 cases) and other karyotypes (53 cases),blood lipid and the incidence of dyslipidemia in two groups were compared.[Result] Compared to age-matched control girls,TS patients of age 11~15 years group had higher TG levels and higher incidence of hypertriglyceridemia and borderline-hypertriglyceridemia (P<0.05) and the incidence of borderline-hypercholesterolemia was also significantly higher (P<0.01).But there were no differences in blood lipid level,incidence of dyslipidemia and the incidence of borerline-dyslipidemia between TS patients who were less than 11 years old and age-matched control girls.Total cholesterol of TS patients was negatively related to bone age (P<0.05).Triglyceride of TS patients was positively related to waist circumference (P<0.01).TS patients of 45,XO karyotype had lower TG levels,higher HDL levels and lower incidence of low HDL,borderline-high non-HDL and borderline-hypertriglyceridemia compared with those of other karyotypes (P<0.05).[Conclusions] Triglyceride in TS patients of age 11-15 years were higher than the control subjects,which may be related to estrogen deficiency and chromosome karyotype.