Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia
Elvan BayramoğluMelikşah KeskinZehra AycanSenay Savas ErdeveSemra CetinkayaPublished in: Journal of clinical research in pediatric endocrinology (2021)
Of the four different TRPM6 mutations in this small cohort, three had not been previously reported. The long-term prognosis of HSH appears to be good, given early diagnosis and good treatment compliance. This long-term follow-up and prognostic data and the three novel mutations will contribute to the published evidence concerning this rare condition, HSH, and it is hoped will prevent negative outcomes.