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目的对1例罕见的17岁矮妖综合征患者进行临床及分子生物学研究,探讨其发病机制及特点。方法对该患者进行病史询问及相关检查。采集患者及其家系成员(父母及妹妹)的血 DNA 样本,进行胰岛素受体编码基因(INSR)各外显子的 PCR 扩增测序。结果该患者面容特殊,体型消瘦,体重指数15.5 kg/m~2,多毛,全身黑棘皮病。空腹 C 肽2.92μg/L,胰岛素104 mIU/L,空腹血糖15.8 mmol/L;糖化血红蛋白(HbA1c)12%。住院后予格列美脲4 mg/d 治疗4 d,空腹血糖降至15.1 mmol/L,空腹 C 肽增至7.4μg/L;后加用胰岛素治疗(约200 U/d),空腹血糖降至12.3 mmol/L。基因筛查发现,患者 INSR 存在 W659R 及 V1054M 的复合杂合突变,分别位于第9及17号外显子,此为矮妖综合征一新的突变类型。而其父只存在 V1054M 突变;其母只存在 W659R 突变,其妹正常。结论患者为一新的 INSR 突变引起的矮妖综合征,其生存期长,对其特殊表现尚需做进一步的研究。
Objective To study the clinical and molecular biology of a rare case of 17-year-old leprechaun syndrome and to explore its pathogenesis and characteristics. Methods The patient history inquiry and related tests. Blood DNA samples of patients and their family members (parents and sister) were collected and sequenced by PCR amplification of each exon of Insulin Receptor Encoding Gene (INSR). Results The patient face special, body weight loss, body mass index 15.5 kg / m ~ 2, hirsutism, body acanthosis nigricans. Fasting C-peptide 2.92 μg / L, insulin 104 mIU / L, fasting blood glucose 15.8 mmol / L; HbA1c 12%. Admitted to glimepiride 4 mg / d after treatment for 4 days, fasting blood glucose dropped to 15.1 mmol / L, fasting C-peptide increased to 7.4μg / L; followed by insulin treatment (about 200 U / d) To 12.3 mmol / L. Gene screening found that patients with INSR exist W659R and V1054M compound heterozygous mutations, respectively, located in exons 9 and 17, which is a new type of mutation leishman syndrome. While his father only had V1054M mutation; his mother only had W659R mutation, his sister was normal. Conclusions The patient is a new leukemia syndrome caused by a mutation of INSR, which has a long survival period and requires further study on its special manifestations.