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Literature DB >> 21964762

Gitelman syndrome: novel mutation and long-term follow-up.

Aditi Sinha¹, Petr Lněnička, Biswanath Basu, Ashima Gulati, Pankaj Hari, Arvind Bagga.

Abstract

We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2011 PMID： 21964762 DOI： 10.1007/s10157-011-0542-x

Source DB: PubMed Journal: Clin Exp Nephrol ISSN： 1342-1751 Impact factor: 2.801

11 in total

1. Gitelman's not-so-benign syndrome.

Authors: Roman T Pachulski; Fernando Lopez; Rashid Sharaf
Journal: N Engl J Med Date: 2005-08-25 Impact factor: 91.245

2. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

Authors: Eva Riveira-Munoz; Qing Chang; Nathalie Godefroid; Joost G Hoenderop; René J Bindels; Karin Dahan; Olivier Devuyst
Journal: J Am Soc Nephrol Date: 2007-02-28 Impact factor: 10.121

3. Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life.

Authors: José David Herrero-Morín; Julián Rodríguez; Eliecer Coto; Helena Gil-Peña; Victoria Alvarez; Laura Espinosa; César Loris; Marta Gil-Calvo; Fernando Santos
Journal: Nephrol Dial Transplant Date: 2010-06-22 Impact factor: 5.992

4. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

Authors: H H Lemmink; N V Knoers; L Károlyi; H van Dijk; P Niaudet; C Antignac; L M Guay-Woodford; P R Goodyer; J C Carel; A Hermes; H W Seyberth; L A Monnens; L P van den Heuvel
Journal: Kidney Int Date: 1998-09 Impact factor: 10.612

5. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

Authors: Melanie Peters; Nikola Jeck; Stephan Reinalter; Andreas Leonhardt; Burkhard Tönshoff; G ünter Klaus G; Martin Konrad; Hannsjörg W Seyberth
Journal: Am J Med Date: 2002-02-15 Impact factor: 4.965

6. Hypokalaemia and failure to thrive: report of a misleading onset.

Authors: Giovanni Conti; Agata Vitale; Silvana Tedeschi; Marie-Louise Syrén; Roberta Pantano; Roberto Chimenz; Salvatore Fede; Francesco La Torre; Domenico Coviello; Carmelo Fede
Journal: J Paediatr Child Health Date: 2010-04-16 Impact factor: 1.954

7. Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.

Authors: K Takeuchi; S Kure; T Kato; Y Taniyama; N Takahashi; Y Ikeda; T Abe; K Narisawa; Y Muramatsu; K Abe
Journal: J Clin Endocrinol Metab Date: 1996-12 Impact factor: 5.958

8. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

Authors: D B Simon; C Nelson-Williams; M J Bia; D Ellison; F E Karet; A M Molina; I Vaara; F Iwata; H M Cushner; M Koolen; F J Gainza; H J Gitleman; R P Lifton
Journal: Nat Genet Date: 1996-01 Impact factor: 38.330

9. Long-term follow-up of a patient with Gitelman's syndrome.

Authors: A Bettinelli; M G Metta; A Perini; E Basilico; C Santeramo
Journal: Pediatr Nephrol Date: 1993-02 Impact factor: 3.714

10. A thiazide test for the diagnosis of renal tubular hypokalemic disorders.

Authors: Giacomo Colussi; Alberto Bettinelli; Silvana Tedeschi; Maria Elisabetta De Ferrari; Marie Louise Syrén; Nicolò Borsa; Camilla Mattiello; Giorgio Casari; Mario Giovanni Bianchetti
Journal: Clin J Am Soc Nephrol Date: 2007-03-14 Impact factor: 8.237

7 in total

1. A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.

Authors: W Tang; X Huang; Y Liu; Q Lv; T Li; Y Song; X Zhang; X Chen; Y Shi
Journal: J Endocrinol Invest Date: 2020-07-08 Impact factor: 4.256

Gitelman syndrome: novel mutation and long-term follow-up.

1. Gitelman's not-so-benign syndrome.

2. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.

3. Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life.

4. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

5. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.

6. Hypokalaemia and failure to thrive: report of a misleading onset.

7. Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.

8. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

9. Long-term follow-up of a patient with Gitelman's syndrome.

10. A thiazide test for the diagnosis of renal tubular hypokalemic disorders.

1. A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.

2. Gitelman syndrome combined with complete growth hormone deficiency.

3. Mutation profile and treatment of Gitelman syndrome in Chinese patients.

4. Gitelman syndrome in an infant.

5. Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report.

6. Comment on Gitelman's syndrome: Rare presentation with growth retardation.

7. A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.