Department of Pediatric Oncology, The Indus Hospital, Karachi, Pakistan.
Department of Pediatrics, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan.
Sultan Qaboos Univ Med J. 2020 Nov;20(4):e385-e389. doi: 10.18295/squmj.2020.20.04.017. Epub 2020 Dec 21.
Pierson syndrome is caused by mutations in the gene causing absent β2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation. We report a two-month old boy who presented to the Pediatrics Department of Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan, in 2015, with the typical features of microcoria and congenital nephrotic syndrome. The hypocalcaemia, hypoproteinaemia and probable immunocompromised state consequent to nephrotic syndrome resulted in seizures, hypothyroidism and urosepsis. Despite being treated aggressively with high dose antibiotics, ionotropic support, angiotensin-converting enzyme inhibitors, thyroxine replacement and nutritional support, the infant died due to significant multiorgan disease including renal failure and septic shock.
皮尔逊综合征是由基因缺失引起的，该基因导致β2 层粘连蛋白缺失，β2 层粘连蛋白是成熟肾小球基底膜、前眼和神经肌肉接头的正常组成部分。突变表现为先天性肾病综合征和小瞳孔，这是该疾病的典型眼部特征。这些突变也可能导致神经发育异常，如低张力和精神运动发育迟缓。我们报告了一个 2015 年在巴基斯坦卡拉奇的 Dr. Ruth K. M. Pfau 公民医院儿科就诊的两个月大男婴，他具有小瞳孔和先天性肾病综合征的典型特征。低钙血症、低蛋白血症和肾病综合征引起的免疫功能低下导致癫痫发作、甲状腺功能减退和尿路感染败血症。尽管婴儿接受了积极的治疗，包括大剂量抗生素、离子型支持、血管紧张素转换酶抑制剂、甲状腺素替代和营养支持，但由于多器官疾病（包括肾衰竭和感染性休克）严重，婴儿死亡。
