Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a mutation.

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.