Wood Olivia R, Else Tobias, Sampson Matthew G
University of Michigan, Ann Arbor, Michigan, USA.
Internal Medicine-Endocrinoloy, University of Michigan, Ann Arbor, Michigan, USA.
BMJ Case Rep. 2019 Aug 30;12(8):e229904. doi: 10.1136/bcr-2019-229904.
Pathogenic variants in the gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted sequencing found the same pathogenic variant p.C618S in the child as her mother. The child is followed by paediatric nephrology for congenital anomalies of the kidney and urinary tract (CAKUT) and by endocrine oncology for surveillance for MEN2A-related endocrine tumours. While implicated in each of these conditions individually, variants have never been reported to cause MEN2A and CAKUT together. This child's family history prompted sequencing, resulting in presymptomatic, personalised care for MEN2A. However, this case supports the idea that genetic screening of (and many other genes) in patients with CAKUT may lead to molecular diagnoses that potentially improve their health through precision care.
该基因的致病变异可导致孤立性和多系统疾病。我们报告了一名产前诊断为单侧多囊性发育不良肾和泌尿生殖系统异常的患者，其母亲患有2A型多发性内分泌肿瘤（MEN2A）。靶向测序发现该儿童与她母亲具有相同的致病变异p.C618S。该儿童由儿科肾脏病学医生随访先天性肾脏和尿路异常（CAKUT），并由内分泌肿瘤学医生监测与MEN2A相关的内分泌肿瘤。虽然这些变异分别与每种疾病有关，但从未有报道称它们会共同导致MEN2A和CAKUT。这个孩子的家族史促使进行测序，从而为MEN2A提供了症状前的个性化护理。然而，该病例支持这样一种观点，即对CAKUT患者进行该基因（以及许多其他基因）的基因筛查可能会导致分子诊断，从而有可能通过精准医疗改善他们的健康状况。
