Mutation profile and treatment of Gitelman syndrome in Chinese patients

  title={Mutation profile and treatment of Gitelman syndrome in Chinese patients},
  author={Fen Wang and Chuan Shi and Yunying Cui and Chunyan Li and Anli Tong},
  journal={Clinical and Experimental Nephrology},
BackgroundGitelman syndrome (GS) is a rare autosomal recessive disease caused by loss-of-function mutations in the SLC12A3 gene, and is characterized by hypokalemia and metabolic alkalosis. In this study, we aimed to study the genotype, phenotype, and treatment in 42 GS patients, the largest sample size so far in mainland China.MethodWe retrospectively studied the clinical data and genetic characteristics of 42 patients diagnosed with GS in Peking Union Medical College Hospital from 2012 to… 
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome
  • Yanmei Zeng, Ping Li, Meiping Guan
  • Medicine, Biology
    Medical science monitor : international medical journal of experimental and clinical research
  • 2019
The SLC12A3 gene analysis in Chinese GS patients revealed that the most common mutation was Thr60Met, one of the missense mutations, which might be explained by gene rearrangement.
Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome
This study assessed the genotype–phenotype correlations based on the medical histories, clinical symptoms, laboratory test results, and whole-exome sequencing profiles from pediatric patients with Gitelman syndrome to reveal more variants in SLC123A among GS patients with single heterozygous mutations.
Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children
Homozygous variant and the p.(T60M) variant may be associated with earlier onset and lower urinary calcium excretion in Chinese pediatric GS.
Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
Genetic studies may improve the diagnostic accuracy of Gitelman syndrome and improve genetic counseling for individuals and their families with these types of genetic disorders.
Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood
The phenotype of unsolved cases is similar to that of pseudo BS/GS cases, although the genetic and autoimmune profiles of these unsolved cases have not yet been investigated to date, and these cases may be categorized into new disease groups.
Gitelman syndrome combined with growth hormone deficiency
Recombinant human growth hormone therapy is useful for stimulating the patients’ growth, and it may increase the serum magnesium level, although the potassium level was still slightly lower than normal.
A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family
This study will add more knowledge about GS in Arab populations’ database of genetic disorders and will help in the genetic counselling of the families in Saudi Arabia.
A Case of Gitelman Syndrome in Children and Literature Review
Gitelman syndrome in children has an insidious onset, and the discovery of related gene pathogenic mutations by genetic testing is a diagnostic method.
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia
Hypocalcemia in Gitelman syndrome is rare, and may be related to inhibited PTH secretion induced by hypomagnesemia, as well as hypocalciuria and transient decreased PTH.


Gitelman's syndrome: a pathophysiological and clinical update
Two adult male siblings of Jewish origin with late onset Gitelman’s syndrome, who presented in their fifth decade of life with muscle weakness, hypokalemia, hypomagnesaemia, and metabolic alkalosis are reported.
Spectrum of mutations in Gitelman syndrome.
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to
Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation.
Screening of recurrent hot spot SLC12A3 mutations may provide an early diagnosis of Gitelman's syndrome, with male patients having an earlier age of onset, more severe hypokalemia, and significantly lower serum aldosterone concentration.
Early appearance of hypokalemia in Gitelman syndrome
The diagnosis of Gitelman syndrome deserves consideration in infants with unexplained hypokalemia, and molecular biology studies failed to detect mutations in the SLC12A1, KCNJ1, and CLCNKB genes responsible for the Bartter syndromes type I, II and III, respectively.
[Clinical analysis of 17 cases of Gitelman syndrome].
The primary clinical manifestations of Gitelman syndrome are lower extremity weakness with hypokalemia and hypomagnesemia and combined drug therapies including potassium, magnesium, aldosterone antagonists and other drugs are recommended.
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
This descriptive study indicates that GS is not an asymptomatic disease and adversely affects QOL in these patients, particularly in terms of role limitations caused by physical health, emotion, level of energy, and general health perception.
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics
This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.
[Gitelman syndrome in pregnancy--a severe hypokalemia with favorable perinatal prognosis].
Pregnancy has a very favorable perinatal prognosis despite critical serum levels of potassium and magnesium throughout the pregnancy, and the analysis of published case studies suggests a need for ion supplementation, reduction of urinary potassium wasting, monitoring of fetal well-being and amniotic fluid levels.
Gitelman syndrome: novel mutation and long-term follow-up
Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms and over a follow-up of 11 years, the patient showed satisfactory growth and physical development.
Etiologic and therapeutic analysis in patients with hypokalemic nonperiodic paralysis.