目的 探讨腹腔镜全结肠切除术在家族性腺瘤性息肉病（FAP）中的应用价值。方法 回顾性分析我院2008年1月至2009年10月期间收治的行腹腔镜全结肠切除术的4例FAP患者的临床资料，对手术安全性和术后恢复情况进行分析。结果 4例患者均顺利行腹腔镜全结肠切除术，无中转开腹，无手术并发症及死亡。腹部切口长6.0 cm，手术时间300～380 min（平均330 min），术中出血量90～250 ml（平均160 ml）。术后2～3 d肛门开始排气，术后住院时间7～11 d（平均9 d）出院。出院后大便稀薄，8～12次/d，给予易蒙停治疗后缓解。随访2～22个月（平均14个月），无近期并发症发生。结论 腹腔镜全结肠切除术治疗FAP安全、有效，近期效果良好。
ObjectiveTo observe and analyze the genotype and clinical phenotype in 34 families of familial exudative vitreoretinopathy associated with (FEVR) gene variation.MethodsCohort study. Thirty-four FEVR families, in which the patients and both of their parents were all found to have FEVR-related gene mutations (proband 34 cases, 67 eyes; parents 68 cases, 136 eyes), were included in the study. These patients were identifIed from 722 FEVR patients through genetic screening, which diagnosed in Department of Ophtalmology of Xinhua Hospital and Tianjin Medical University Eye Hospital from January 2010 to December 2018. The probands and their parents underwent a comprehensive ophthalmological examination appropriate to their age, including BCVA, intraocular pressure, axial length, slit lamp examination, indirect ophthalmoscopy, FFA or color fundus photography or wide field color fundus photography. According to the severity of the disease, the clinical manifestations were divided into severe phenotype and mild phenotype. Thirty-four normal healthy people over 40 years old were included as the control group. The peripheral blood samples of FEVR family members and control group members were collected, and the genes known to be involved in FEVR, such as FZD4, LRP5, NDP, TSPAN12, ZNF408 and KIF11, were analyzed by next generation sequencing molecular genetics. The data were statistically analyzed by SPSS. The counting data was expressed in numbers or rates, and tested by Kruskal-Wallis test and χ2 test to find out the existence of significant difference.ResultsIn 67 eyes of the 34 probands, 48 eyes (71.64%) were classified into severe phenotype and 19 eyes (28.36%) were mild phenotype. In 136 eyes of 68 parents of the proband patients, 76 eyes (55.88%) were normal, 60 eyes (44.12%) were classified into mild phenotype, and no severe phenotype was found. A total of 65 variants of FEVR-related genes were detected in the 34 probands, of which LRP5 mutation was the most common (64.61%), followed by FZD4 (12.31%), NDP (10.77%), TSPAN12 (6.15%), ZNF408 (4.62%) and KIF11 (1.54%). Missense mutations were the most common variant in FEVR-related genes. However, the results of correlation analysis indicated that there was no significant correlation between the type of mutation and the severity of clinical phenotype (H=1.775, P=0.620). Among the 65 mutation types, 21 types have been previously identified and 44 were novel in this study. Thirty-nine eyes of 20 cases had only one single pathogenic mutation gene but with multiple mutation sites, 26 eyes of 13 cases carried 2 relevant pathogenic mutation genes, and 2 eyes in one case had 3 pathogenic mutation genes. The mutation frequencies of LRP5, NDP, ZNF408, FZD4, TSPAN12 and KIF11 genes in probands were significantly higher than those in control group, and the difference was statistically significant. The total mutation frequencies of LRP5, NDP, ZNF408, FZD4, TSPAN12 and KIF11 genes in proband group were significantly higher than those in control group (χ2=64.702, P＜0.001).ConclusionsIn the FEVR families, the most frequent mutations were those in LRP5, followed by FZD4, NDP, TSPAN12,ZNF408 and KIF11. Missense mutation is the most common type of FEVR-related gene mutation, but there is no significant correlation between the clinical phenotype and gene variation type. Most of the probands were with severe clinical phenotype, while most of the parents with FEVR pathogenic gene mutation showed normal or mild manifestations.
ObjectiveTo investigate the causes of secondary glaucoma after vitrectomy for familial vitreous amyloidosis associated with transthyretin (TTR) gene Gly83Arg mutation.MethodsA retrospective case study. From January 2008 to January 2020, 13 cases (23 eyes) with hereditary vitreous amyloidosis and treated by vitrectomy in the Affiliated Hospital of Zunyi Medical University were collected. Among them, there were 7 males with 12 eyes and 6 females with 11 eyes. The average age was 43.0±4.8 years. All the affected eyes underwent standard three-channel vitrectomy through the flat part of the ciliary body. According to whether complete vitreous detachment (PVD) was formed during the operation, it was divided into complete PVD group and incomplete PVD group; according to the occurrence time of secondary glaucoma and vitreous amyloidosis after surgery, it was divided into 1-12 months group and 13-36 months group, ＞37 months group. The average follow-up time after surgery was 36.7±6.0 months. The incidence of secondary glaucoma and the recurrence rate of vitreous amyloidosis between groups were compared by χ2 test; the correlation between recurrence of vitreous amyloidosis and secondary glaucoma after surgery was analyzed by Spearman rank correlation analysis.ResultsAmong the 23 eyes, there were 8 eyes in the complete PVD group and 15 eyes in the incomplete PVD group, respectively. Vitreous amyloidosis recurred in 15 eyes (65.22%, 15/23) after surgery. There were 14 (93.30%, 14/15) and 1 (6.70%, 1/15) eyes in the incomplete PVD group and the complete PVD group, respectively; the comparison of the recurrence rate of vitreous amyloidosis between the two groups was statistically significant (χ2=11.676, P＜0.01). 1-12 months group, 13-36 months group, ＞37 months group included 1 (4.35%, 1/23), 12 (52.17%, 12/23), 2 (8.70%, 2/23) Only eye. The recurrence rate in the 13-36 months group was significantly higher than that in the 1-12 months group and ＞37 month group. Secondary glaucoma occurred in 11 eyes (47.80%, 11/23) after surgery. 1-12 months group, 13-36 months group, above 37 months group were 1 (4.35%, 1/23), 8 (34.78%, 8/23), 2 (8.70%, 2/23) eyes. The incidence of secondary glaucoma in the 13-36 months group was higher than that in the 1-12 months group and ＞37 months group. Among 11 eyes with secondary glaucoma, 10 eyes had recurrence of vitreous amyloidosis after surgery, and 1 eye had no recurrence. The results of Spearman rank correlation analysis showed that there was a positive correlation between the recurrence of vitreous amyloidosis and the occurrence of secondary glaucoma (rs=0.516, P=0.012).ConclusionThe incidence of secondary glaucoma after vitrectomy in a family with vitreous amyloidosis caused by the Gly83Arg mutation of TTR gene is higher, and its occurrence is significantly positively correlated with the recurrence of vitreous amyloidosis.
ObjectiveTo observe and investigate the related factors that might affect clinical features of familial exudative vitreoretinopaty (FEVR) patients. MethodsA retrospective chart study. From January 2012 and December 2021, 42 patients with 84 eyes with a diagnosis of FEVR from Department of Ophthalmology, Peking University People's Hospital were included in the study. The patients came from 42 separate families. There were 31 males and 11 females, with an average age of first diagnosis was 16.6±33.7 months. There were 21 patients referred from other hospitals for the fundus disease found in eye screening after birth, 21 patients were first seen in our hospital. There were 4 and 38 premature and full-term infants, respectively. Two patients with a positive family history of FEVR. All patients are FEVR stages 1-5. The wide-angle digital pediatric retinal imaging system after general anesthesia for fluorescein fundus angiography (FFA) examination were performed for patients aged ＜5 years. If patients ≥ 5 years old, routine FFA examination was performed. Sixty-eight first-degree relatives from 28 families undergo routine fundus examinations and FFA examination. Genetic examination was performed for 26 families, including 26 probands and 57 first-degree relatives. Genetic examination were performed on gene the coreceptor of low density lipoprotein receptor-associated protein 5 (LRP5), Wnt receptor coiled protein 4 (FZD4), Norrie disease (NDP), tetraporin 12 (TSPAN12), catenin β1 (CTNNB1) genes known to be involved in FEVR. The clinical features and the genotype of FEVR were observed in relation to the clinical phenotype. ResultsAmong the 42 patients, 13 patients were first observed by strabismus and nystagmus, with the median age of 12 months. Eight patients were complained non-chasing or vision-related symptoms. Among the 84 eyes, FEVR stage 1 or 2, 3 or 4, and 5 were 50 (59.5%, 50/84), 31 (36.9%, 31/84), and 3 (3.6%, 3/84) eyes, respectively. Among the 23 patients who were > 3 months at first diagnosis, 16 patients had at least one eye severer than stage 3 (69.6%, 16/23). Of the 68 first-degree relatives, 22 (32.4%, 22/68) had FEVR-like changes. Among the 26 families that underwent genetic detection, 13 families (50%, 13/26) of 16 variants of FEVR-related genes were detected, of which 10 mutations of LRP5 gene were the most common. There were 10 families with single gene mutations, including 6, 2 and 2 families of LRP5, FZD4 and CTNNB1 genes, respectively. One family of LRP5 gene mutations were compound heterozygous mutations, 1 family with LRP5 gene mutaition combined with NDP gene mutation, and 1 family with LRP5 and TSPAN12 gene mutation. Among the proband with FEVR pathogenic genes, 6 cases with similiar stage of both eyes, and 7 cases with inconsistent disease stages, and there was no obvious correlation between gene mutations and clinical phenotypes. ConclusionIn addition to the age of first diagnosis, no exact factors affecting the clinical manifestations of FEVR are found, and the association between clinical phenotypic and genetic heterogeneity still needs to be further explored.