Slovenian
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
Annals of Pediatric Endocrinology and Metabolism 2013-Mar

Gitelman syndrome combined with complete growth hormone deficiency.

Samo registrirani uporabniki lahko prevajajo članke
Prijava / prijava
Povezava se shrani v odložišče
Se Ra Min
Hyun Seok Cho
Jeana Hong
Hae Il Cheong
Sung Yeon Ahn

Ključne besede

Povzetek

Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is caused by mutations in the solute carrier family 12(sodium/chloride transporters), member 3 (SLC12A3) gene encoding the thiazide-sensitive sodium chloride cotransporter channel (NCCT) in the distal convoluted tubule of the kidney. It is associated with muscle weakness, cramps, tetany, vomiting, diarrhea, abdominal pain, and growth retardation. The incidence of growth retardation, the exact cause of which is unknown, is lower than that of Bartter syndrome. Herein, we discuss the case of an overweight 12.9-year-old girl of short stature presenting with hypokalemic metabolic alkalosis. The patient, on the basis of detection of a heterozygous mutation in the SLC12A3 gene and poor growth hormone (GH) responses in two provocative tests, was diagnosed with Gitelman syndrome combined with complete GH deficiency. GH treatment accompanied by magnesium oxide and potassium replacement was associated with a good clinical response.

Pridružite se naši
facebook strani

Najbolj popolna baza zdravilnih zelišč, podprta z znanostjo

  • Deluje v 55 jezikih
  • Zeliščna zdravila, podprta z znanostjo
  • Prepoznavanje zelišč po sliki
  • Interaktivni GPS zemljevid - označite zelišča na lokaciji (kmalu)
  • Preberite znanstvene publikacije, povezane z vašim iskanjem
  • Iščite zdravilna zelišča po njihovih učinkih
  • Organizirajte svoje interese in bodite na tekočem z raziskavami novic, kliničnimi preskušanji in patenti

Vnesite simptom ali bolezen in preberite o zeliščih, ki bi lahko pomagala, vnesite zelišče in si oglejte bolezni in simptome, proti katerim se uporablja.
* Vse informacije temeljijo na objavljenih znanstvenih raziskavah

Google Play badgeApp Store badge