Al Sharie Ahmed H, Abu Mousa Balqis M, Al Zu'bi Yazan O, Al Qudah Mohammad A, Jaradat Saied A, Barakat Ahmad, Altamimi Eyad
From the Faculty of Medicine, Jordan University of Science & Technology, Irbid, Jordan.
Faculty of Medicine, Hashemite University, Zarqa, Jordan.
JPGN Rep. 2023 May 9;4(2):e317. doi: 10.1097/PG9.0000000000000317. eCollection 2023 May.
Anoctamin 1 (ANO1)-related intestinal dysmotility syndrome (OMIM: 620045) is an extremely rare disorder with only 2 cases reported in the medical literature. We present the clinical scenario of a 2-month-old male infant that presented to our center with diarrhea, vomiting, and abdominal distension. Routine investigations did not yield a clear diagnosis. Whole-exome sequencing showed a novel homozygous nonsense pathogenic variant (c.1273G>T) with a protein alternation of p.Glu425Ter that fits the patient's phenotype. Sanger sequencing revealed the same variant in both parents in a heterozygous form confirming an autosomal recessive mode of inheritance. The patient experienced multiple bouts of diarrhea-related metabolic acidosis, dehydration, and severe electrolyte imbalances that required intensive care unit monitoring. The patient was managed conservatively and being followed regularly in an outpatient setting.
anoctamin 1（ANO1）相关的肠道动力障碍综合征（OMIM：620045）是一种极为罕见的疾病，医学文献中仅报道过2例。我们呈现了一名2个月大男婴的临床病例，该患儿因腹泻、呕吐和腹胀前来我院就诊。常规检查未能明确诊断。全外显子测序显示一个新的纯合无义致病性变异（c.1273G>T），其蛋白质改变为p.Glu425Ter，与患者的表型相符。Sanger测序显示父母双方均为该变异的杂合形式，证实为常染色体隐性遗传模式。该患者经历了多次与腹泻相关的代谢性酸中毒、脱水和严重电解质失衡，需要重症监护病房监测。对该患者进行了保守治疗，并在门诊定期随访。
