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Journals / Cukurova Medical Journal / 2018 / Cilt: 43 - Sayı: 4

A case of congenital nephrogenic diabetes insipidus with aquaporin 2 gene mutation

Aquaporin 2 mutasyonu saptanan konjenital nefrojenik diabetes insipiduslu bir ol

Belma HALİLOĞLU
Bahriye ATMIŞ
Engin MELEK
Pages
1065–1067
Publication Date
2022-10-12
DOI
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HALİLOĞLU, B., ATMIŞ, B., MELEK, E. (2022). A case of congenital nephrogenic diabetes insipidus with aquaporin 2 gene mutation. Cukurova Medical Journal, Cilt: 43 - Sayı: 4, 1065–1067. https://ajindex.com/articles/476843

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References (5)

  1. Wesche D, Deen PM, Knoers NV. Congenital nephrogenic diabetes insipidus: the current state of affairs. Pediatr Nephrol. 2012;27:2183-204
  2. Knoers VAMN, Levtchenko EN. Nephrogenic diabetes insipidus in children. In Pediatric Nephrology, 7th edition (Eds ED Avner, VE Harmon, P Niaudet):1307-27. Heidelberg, Springer-Verlag 2016;1307-27
  3. Moeller HB, Rittig S, Fenton RA. Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment. Endocr Rev. 2013;34:278-301
  4. Bichet DG, El Tarazi A, Matar J, Lussier Y, Arthus MF, Lonergan M et al. Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology. Clin Kidney J. 2012;5:195-202
  5. Vergier J, Fromonot J, Alvares De Azevedo Macedo A, Godefroy A, Marquant E, Guieu R et al. Rapid differential diagnosis of diabetes insipidus in a 7-month-old infant: The copeptin approach. Arch Pediatr. 2018;25:45-7.