Publications by authors named "Wai Sheung Wong"

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A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by mutation.

F1000Res 2019 9;8:1612. Epub 2019 Sep 9.

Department of Chemical Pathology, Prince of Wales Hospital, Shatin, Hong Kong.

Familial hypocalciuric hypercalcaemia (FHH) is a genetic disorder of altered calcium homeostasis. Mutations in the , and genes have been reported to cause FHH. We report a Hong Kong Chinese kindred with FHH type 3 (FHH3) caused by mutations in . The proband, a 51-year-old woman with hypercalcaemia, was initially diagnosed to have primary hyperparathyroidism but repeated parathyroidectomy failed to normalize her plasma calcium concentrations. Later, FHH was suspected and yet no mutations were identified in the gene which causes FHH type 1 (FHH1), the most common form of FHH. Genetic testing of revealed a heterozygous c.43C>T (p.Arg15Cys) mutation, confirming the diagnosis of FHH3. The elder brother and niece of the proband, who both have hypercalcaemia, were found to harbour the same mutation. To our knowledge, this is the first Chinese kindred of FHH3 reported in the English literature.
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http://dx.doi.org/10.12688/f1000research.20344.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826774PMC
June 2020
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