TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism

Journal of the Endocrine Society
Sumie YamashitaDaisuke Hata

Abstract

Maternal-fetal transport of calcium (Ca2+) is important for bone mineralization in fetal development. Insufficient Ca2+ transport causes transient neonatal hyperparathyroidism (TNHP). Transient receptor potential cation channel, subfamily V, member 6 (TRPV6), has been found to play an important role in the active transport of Ca2+ through the placenta. Recently, TRPV6 gene was found to be the gene responsible for TNHP with severe skeletal undermineralization. To date, only seven cases of TNHP caused by TRPV6 recessive mutations have been reported. We present a case of TNHP caused by TRPV6 gene mutations. A female newborn was hospitalized because of respiratory distress. Marked undermineralization of the skeleton was observed in X-ray imaging. Laboratory examination revealed markedly high PTH and absence of hypercalcemia along with vitamin D deficiency. Her twin brother presented with almost no symptoms. Maternal laboratory findings indicated normocalcemia, but vitamin D deficiency with a high PTH level for the lactation period was observed. We initially diagnosed the patient as having secondary hyperparathyroidism because of maternal vitamin D deficiency. Nevertheless, the reasons underlying the discordant clinical manifestatio...Continue Reading

References

Nov 1, 2001·Proceedings of the National Academy of Sciences of the United States of America·S J Van CromphautG Carmeliet
Aug 15, 2002·Biochimica Et Biophysica Acta·Robert MoreauJulie Lafond
Sep 14, 2007·Annual Review of Physiology·Yoshiro SuzukiMatthias A Hediger
Mar 20, 2008·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Yoshiro SuzukiMatthias A Hediger
Dec 4, 2016·Biochimica Et Biophysica Acta. Molecular Cell Research·Mark K C van GoorJenny van der Wijst

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Citations

Jan 23, 2021·RSC Medicinal Chemistry·Micael Rodrigues CunhaJean-Louis Reymond
Feb 22, 2021·Biochimica Et Biophysica Acta. General Subjects·Verena NettUlrich Wissenbach
May 9, 2021·Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft·Karin WolskeUlrich Wissenbach
Nov 3, 2021·Nature Communications·Arthur NeubergerAlexander I Sobolevsky

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Methods Mentioned

BETA
cesarean section
X-ray
PCR

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