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Comment
. 2016 Oct;90(4):721-3.
doi: 10.1016/j.kint.2016.07.031.

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition

Raymond Quigley  1 , Jeffrey M Saland  2
Affiliations
Free article
Comment

Transient antenatal Bartter's Syndrome and X-linked polyhydramnios: insights from the genetics of a rare condition

Raymond Quigley et al. Kidney Int. 2016 Oct.
Free article

Abstract

The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.

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  • A new familial disorder characterized by hypokalemia and hypomagnesemia.
    Gitelman HJ, Graham JB, Welt LG. Gitelman HJ, et al. Trans Assoc Am Physicians. 1966;79:221-35. Trans Assoc Am Physicians. 1966. PMID: 5929460 No abstract available.
  • Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
    Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Göbel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmüller J, Nürnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Kömhoff M. Laghmani K, et al. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. N Engl J Med. 2016. PMID: 27120771

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