Research & Literature

Gitelman's syndrome as a cause of poorly controlled hypokalemia.

Dimitrijevic Z, Salinger-Martinovic S, Mitic B, Nikolic V

La Clinica terapeutica 2015; (166(3)):e173-6 doi:10.7417/CT.2015.1850.

Pathophysiology and clinical presentations of salt-losing tubulopathies.

Seyberth HW

Pediatric nephrology (Berlin, Germany) 2016; (31(3)):407-18 doi:10.1007/s00467-015-3143-1.

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

Smeets HJ, Sallevelt SC, Dreesen JC, et al.

Annals of the New York Academy of Sciences 2015; (1350()):29-36 doi:10.1111/nyas.12866.

Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes.

Robinson CM, Karet Frankl FE

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2017; (32(3)):508-512 doi:10.1093/ndt/gfw019.

Mutation profile and treatment of Gitelman syndrome in Chinese patients.

Wang F, Shi C, Cui Y, et al.

Clinical and experimental nephrology 2017; (21(2)):293-299 doi:10.1007/s10157-016-1284-6.

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Blanchard A, Bockenhauer D, Bolignano D, et al.

Kidney international 2017; (91(1)):24-33 doi:10.1016/j.kint.2016.09.046.

[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].

Zhonghua nei ke za zhi 2017; (56(9)):712-716 doi:10.3760/cma.j.issn.0578-1426.2017.09.021.

[Management of Gitelman syndrome during pregnancy reporting 12 cases].

Elbouajaji K, Blanchier D, Pourrat O, Sarreau M

Nephrologie & therapeutique 2018; (14(7)):536-543 doi:10.1016/j.nephro.2018.06.003.

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

de Laat P, Rodenburg RJ, Smeitink JAM, Janssen MCH

Molecular genetics & genomic medicine 2019; (7(2)):e00523 doi:10.1002/mgg3.523.

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.

Fujimura J, Nozu K, Yamamura T, et al.

Kidney international reports 2019; (4(1)):119-125 doi:10.1016/j.ekir.2018.09.015.

Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.

Shahzad MA, Mukhtar M, Ahmed A, et al.

Case reports in medicine 2019; (2019()):4204907 doi:10.1155/2019/4204907.

The challenges of diagnosis and management of Gitelman syndrome.

Urwin S, Willows J, Sayer JA

Clinical endocrinology 2020; (92(1)):3-10 doi:10.1111/cen.14104.

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Lorenz R, Ahting U, Betzler C, et al.

Nephron 2020; (144(3)):156-160 doi:10.1159/000504412.

Clinical and laboratory features of female Gitelman syndrome and the pregnancy outcomes in a Chinese cohort.

Zhang L, Peng X, Zhao B, et al.

Nephrology (Carlton, Vic.) 2020; (25(10)):749-757 doi:10.1111/nep.13743.

[Bartter-Gitelman syndromes].

Blanchard A, Courand PY, Livrozet M, Vargas-Poussou R

Nephrologie & therapeutique 2020; (16(4)):233-243 doi:10.1016/j.nephro.2020.06.001.

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.

Walker MA, Lareau CA, Ludwig LS, et al.

The New England journal of medicine 2020; (383(16)):1556-1563 doi:10.1056/NEJMoa2001265.

Mitochondrial Genetic Drift after Nuclear Transfer in Oocytes.

Yamada M, Akashi K, Ooka R, et al.

International journal of molecular sciences 2020; (21(16)) doi:10.3390/ijms21165880.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.

Steffann J, Monnot S, Magen M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(4)):720-731 doi:10.1038/s41436-020-01043-3.

Gitelman Syndrome in Pregnancy: A Clinical Challenge.

Ergani SY, Orgul G, Tolunay HE, et al.

Zeitschrift fur Geburtshilfe und Neonatologie 2021; (225(6)):526-528 doi:10.1055/a-1498-2940.

Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.

Bernardino Gomes TM, Ng YS, Pickett SJ, et al.

Human molecular genetics 2021; (30(R2)):R245-R253 doi:10.1093/hmg/ddab156.

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report.

Liu Z, Wang S, Zhang R, et al.

BMC medical genomics 2021; (14(1)):198 doi:10.1186/s12920-021-01047-1.

The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman's and Bartter's Syndromes.

Francini F, Gobbi L, Ravarotto V, et al.

Nutrients 2021; (13(9)) doi:10.3390/nu13092960.

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Viering D, Schlingmann KP, Hureaux M, et al.

Journal of the American Society of Nephrology : JASN 2022; (33(2)):305-325 doi:10.1681/ASN.2021050596.

A Challenging Case of Persisting Hypokalemia Secondary to Gitelman Syndrome.

Bakir M, Ibrahim HAG

Cureus 2021; (13(10)):e18636 doi:10.7759/cureus.18636.

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.

Verploegen MFA, Vargas-Poussou R, Walsh SB, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2022; (37(12)):2474-2486 doi:10.1093/ndt/gfac029.

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.

Seed LM, Dean A, Krishnakumar D, et al.

Molecular genetics & genomic medicine 2022; (10(7)):e1955 doi:10.1002/mgg3.1955.

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Stevenson M, Pagnamenta AT, Mack HG, et al.

Journal of the Endocrine Society 2022; (6(7)):bvac079 doi:10.1210/jendso/bvac079.

The genetic spectrum of Gitelman(-like) syndromes.

Schlingmann KP, de Baaij JHF

Current opinion in nephrology and hypertension 2022; (31(5)):508-515 doi:10.1097/MNH.0000000000000818.

Anesthetic Considerations for Cesarean Delivery in a Parturient With Severe Gitelman Syndrome.

Smith KA, Reynolds ML, Chang EH, et al.

Cureus 2022; (14(6)):e26260 doi:10.7759/cureus.26260.

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Viering DHHM, Hureaux M, Neveling K, et al.

Journal of the American Society of Nephrology : JASN 2023; (34(2)):333-345 doi:10.1681/ASN.2022050627.

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E, Labrum R, Sergeant K, et al.

European journal of human genetics : EJHG 2023; (31(2)):148-163 doi:10.1038/s41431-022-01249-w.

Pathophysiologic approach in genetic hypokalemia: An update.

Blanchard A

Annales d'endocrinologie 2023; (84(2)):298-307 doi:10.1016/j.ando.2022.11.005.

Cardiac Arrest as the First Presentation of Gitelman Syndrome.

Geletu A, Gardner-Gray J, Roche M, Ngassa M

Cureus 2023; (15(1)):e33565 doi:10.7759/cureus.33565.

Reproductive options in mitochondrial disease.

Smeets HJM, Sallevelt SCEH, Herbert M

Handbook of clinical neurology 2023; (194()):207-228 doi:10.1016/B978-0-12-821751-1.00004-X.

Advanced chronic kidney disease with life-threatening hypokalemia due to undiagnosed Gitelman syndrome.

Karagiannidis AG, Alexandrou ME, Lioulios G, et al.

Clinical nephrology. Case studies 2023; (11()):22-28 doi:10.5414/CNCS110977.

Gitelman Syndrome: A Case Report.

Rocha J, Pacheco M, Matos M, et al.

Cureus 2023; (15(5)):e38418 doi:10.7759/cureus.38418.

Heart's Dangerous Symphony: Torsade De Pointes Unleashed by Gitelman Syndrome-Induced Hypomagnesemia.

Idries IY, Azhar M, Yadav R, et al.

Cureus 2023; (15(8)):e44464 doi:10.7759/cureus.44464.

Gitelman Syndrome Manifesting With Acute Hypokalemic Paralysis: A Case Report.

Gunde R, Ca J, Bhat N, et al.

Cureus 2023; (15(9)):e45997 doi:10.7759/cureus.45997.

Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria.

Lee SH, Lee S, Kim H, Kim GH

Electrolyte & blood pressure : E & BP 2023; (21(2)):72-76 doi:10.5049/EBP.2023.21.2.72.

Clinical and genetic analysis of a case of Gitelman syndrome accompanied with Graves disease and adrenocortical adenoma: A case report.

Qiao Y, Zhao J, Wu J, et al.

Medicine 2024; (103(15)):e37770 doi:10.1097/MD.0000000000037770.

First Diagnosis of Gitelman Syndrome During Pregnancy in an Adolescent Female: A Case Report.

Zacharis K, Alexakis C, Tsapadikou VK, et al.

Cureus 2024; (16(5)):e59644 doi:10.7759/cureus.59644.

A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.

Büyükyılmaz G, İnözü M, Çavdarlı B

The Turkish journal of pediatrics 2024; (66(4)):490-498 doi:10.24953/turkjpediatr.2024.4702.

An early onset Gitelman syndrome presenting in a boy with failure to thrive with recurrent hypokalemia and hypomagnesemia: a case report.

Loni R, Almuaili N, Hasan H, et al.

The Pan African medical journal 2024; (49()):59 doi:10.11604/pamj.2024.49.59.45186.

Gitelman Syndrome in a Toddler With Normal Blood Test Findings Except on Sick Days.

Shirane S, Amemiya S, Saito Y, Obonai T

Nephrology (Carlton, Vic.) 2025; (30(4)):e70040 doi:10.1111/nep.70040.

Gitelman syndrome: diagnostic challenges and therapeutic strategies.

Wang Y, Wang H, Li Y, et al.

Clinica chimica acta; international journal of clinical chemistry 2025; (576()):120432 doi:10.1016/j.cca.2025.120432.

Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.

Hyslop LA, Blakely EL, Aushev M, et al.

The New England journal of medicine 2025; (393(5)):438-449 doi:10.1056/NEJMoa2415539.

Gitelman Syndrome Presenting With Seizures and Atypical Features: A Case Series.

Puthenkote BF, Jadhav M, Surapaneni S, et al.

Cureus 2025; (17(7)):e87840 doi:10.7759/cureus.87840.

Gitelman's and Bartter's syndromes in pregnancy - a systematic review.

Hebbard AI, Paizis K, Cutts BA

Obstetric medicine 2026; (19(2)):79-88 doi:10.1177/1753495X251380057.

Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.

Bragança R, Azevedo M, Pereira R, Rebelo AF

Cureus 2026; (18(1)):e101667 doi:10.7759/cureus.101667.

Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.

Melkie IS, Wolde AA, Mengesha LY, et al.

Clinical case reports 2026; (14(3)):e72272 doi:10.1002/ccr3.72272.

Recurrent infection-associated hypokalemia leading to the diagnosis of Gitelman syndrome: a case report.

Yan X, Gong W, Wei Z, et al.

BMC nephrology 2026; (27(1)).

Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest.

Kemal H, Ergoren MC, Koyutourk B, et al.

Pacing and clinical electrophysiology : PACE 2026; doi:10.1111/pace.70302.

Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patients.

Okazaki A, Yatsuka Y, Fushimi T, et al.

Molecular genetics and metabolism 2026; (148(4)):110198 doi:10.1016/j.ymgme.2026.110198.

Acute quadriparesis revealing Gitelman syndrome: a case report.

Chandani HK, Ather A, Siddiqui E, et al.

Annals of medicine and surgery (2012) 2026; (88(7)):4583-4590 doi:10.1097/MS9.0000000000005049.

Home Parenteral Support in Severe Gitelman Syndrome: A Case Report.

Martin G, Fahal I, Mehta S

Clinical case reports 2026; (14(7)):e73210 doi:10.1002/ccr3.73210.

Twelve-Year Follow-up of a Family With CKD Caused by an mtDNA Variant.

Jiang L, Zhou Z, Feng S, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2026; (88(5)):816-822 doi:10.1053/j.ajkd.2026.05.022.

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.

Svojšová K, Kidd KO, Mušálková D, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.07.31.26359118.

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Chen D, Li C, Zhang C, Wang W

Frontiers in medicine 2026; (13()):1920327 doi:10.3389/fmed.2026.1920327.

Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant.

Ribeiro L, Pompermayer M, Santos C, Coutinho J

Jornal brasileiro de nefrologia 2026; (48(3)):e20260105 doi:10.1590/2175-8239-JBN-2026-0105en.