Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Céline MoulyRosa Vargas-PoussouAnne LienhardtCaroline SilveMarguerite HureauxCorinne MagdelaineAlexandre BuffetSolange GrunenwaldJean-Marc KuhnThierry BrueYves ReznikAntoine TabarinDominique Martin-CoignardJean-Philippe HaymannIvan TackAntoine BennetPhilippe J CaronAgnès LinglartDelphine Vezzosinull nullPublished in: Clinical endocrinology (2020)
This large cohort study demonstrates that FHH1 clinical characteristics can be atypical in 33 patients (43%). Clinicians should be aware of this rare differential diagnosis in order to adopt an appropriate treatment strategy.