影响肠道和膀胱的平滑肌疾病已经知道了十年。然而,最近发现的与这些功能障碍相关的基因导致了几种临床表型的描述。我们对所有已发表的病例进行了系统评价,涉及7种具有致病变异的基因,ACTG2,MYH11,FLNA,MYLK,RAD21,MYL9和LMOD1,包括28篇文章,描述了112例患者和5例出生前终止妊娠。最常见的突变涉及ACTG2(75/112,67%的患者),MYH11(14%)和FLNA(13%)。27名患者(28%)的中位年龄为14.5个月。在76名患者中,这些信息是可用的,10例(13%)患有孤立性慢性假性肠梗阻(CIPO),17人(22%)曾隔离过巨型猪,48人(63%)患有合并的CIPO和巨细胞病。这些表型的比例分别为9%,在56例ACTG2突变患者中,有20%和71%,20%,10例MYH11突变患者中20%和60%,50%,7例患者中存在FLNA突变的分别为50%和0%。
Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We performed a systematic
review of all published cases involving seven genes with pathogenic variants, ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1, and included 28 articles describing 112 patients and 5 pregnancies terminated before birth. The most commonly described mutations involved ACTG2 (75/112, 67% of patients), MYH11 (14%) and FLNA (13%). Twenty-seven patients (28%) died at a median age of 14.5 months. Among the 76 patients for whom this information was available, 10 (13%) had isolated chronic intestinal pseudo-obstruction (CIPO), 17 (22%) had isolated
megacystis, and 48 (63%) had combined CIPO and
megacystis. The respective proportions of these phenotypes were 9%, 20% and 71% among the 56 patients with ACTG2 mutations, 20%, 20% and 60% among the 10 patients with MYH11 mutations and 50%, 50% and 0% among the 7 patients with FLNA mutations.