Research & Literature

Two cases of successful pregnancy in patients with Gitelman's syndrome.

Waguespack DR, Kasekar R, Abdel-Kader K, Fissell RB

Clinical nephrology 2015; (84(5)):301-6 doi:10.5414/CN108526.

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.

A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.

Wolyniec W, Jakubowska SK, Nagel M, et al.

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2016; (36(3)):304-9.

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.

Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome.

Nand N, Deshmukh AR, Mathur R, et al.

The Journal of the Association of Physicians of India 2016; (64(10)):104-105.

An Unusual Case of Gout in a Young Woman with Gitelman Syndrome.

Troster SM, Raizman JE, Rubin L

The Journal of rheumatology 2016; (43(11)):2085-2087 doi:10.3899/jrheum.160244.

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.

Glucose tolerance and insulin responsiveness in Gitelman syndrome patients.

Yuan T, Jiang L, Chen C, et al.

Endocrine connections 2017; (6(4)):243-252 doi:10.1530/EC-17-0014.

Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome.

Peng X, Jiang L, Chen C, et al.

PloS one 2017; (12(7)):e0180811 doi:10.1371/journal.pone.0180811.

Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities.

Filippatos TD, Rizos CV, Tzavella E, Elisaf MS

International urology and nephrology 2018; (50(1)):91-96 doi:10.1007/s11255-017-1653-4.

[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.

Gitelman syndrome: a rare life-threatening case of hypokalemic paralysis mimicking Guillain-Barré syndrome during pregnancy and review of the literature.

Elkoundi A, Kartite N, Bensghir M, et al.

Clinical case reports 2017; (5(10)):1597-1603 doi:10.1002/ccr3.1122.

A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION.

Liu S, Ke J, Zhang B, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018; (24(10)):889-893 doi:10.4158/EP-2018-0218.

[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.

A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene.

Chen Q, Wu Y, Zhao J, et al.

BMC nephrology 2018; (19(1)):275 doi:10.1186/s12882-018-1083-2.

Acute pseudogout - Measure serum magnesium.

Gama RM, Barkham N, Ward J, et al.

Annals of clinical biochemistry 2019; (56(3)):411-414 doi:10.1177/0004563219826169.

Calcium Pyrophosphate Deposition Disease in a Patient with Familial Hypokalemia-Hypomagnesemia (Gitelman's-Syndrome): A Case Report - CPPD in Gitelman's syndrome.

Cipolletta E, Di Matteo A, Filippucci E, Grassi W

Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2020; (41(6)):695-697 doi:10.1055/a-0990-9960.

Gut It Out: Laxative Abuse Mimicking Distal Renal Tubular Acidosis.

Sidler M, Mohebbi N, Hoorn EJ, Wagner CA

Kidney & blood pressure research 2019; (44(5)):1294-1299 doi:10.1159/000501855.

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.

Persistent hypokalemia due to a rare mutation in gitelman's syndrome.

Mamalis D, Stratigou T, Vallianou NG, et al.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 2020; (31(1)):259-262 doi:10.4103/1319-2442.279949.

Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene.

Conticini E, Negro A, Magnani L, et al.

Reumatismo 2020; (72(1)):67-70 doi:10.4081/reumatismo.2020.1255.

A Unique Interplay of Multiple Predisposing Factors Culminating in a Catastrophic QT Prolongation.

Vyas V, Khan A, Kanagalingam G, Bhatta L

Cureus 2020; (12(4)):e7757 doi:10.7759/cureus.7757.

Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!

Mantoo MR, Kabra M, Kabra SK

Indian journal of pediatrics 2020; (87(9)):726-732 doi:10.1007/s12098-020-03342-8.

[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.

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

Tang W, Huang X, Liu Y, et al.

Journal of endocrinological investigation 2021; (44(3)):471-480 doi:10.1007/s40618-020-01329-y.

QT Interval in Adult with Chronic Hypokalemia due to Gitelman Syndrome: Not so Frequently Prolonged.

Courand PY, Marques P, Vargas-Poussou R, et al.

Clinical journal of the American Society of Nephrology : CJASN 2020; (15(11)):1640-1642 doi:10.2215/CJN.07540520.

Gitelman Syndrome Presenting with Hypomagnesemia, Hypokalemia and Hypocalciuria: A Case Report.

Uzunlulu M, Dumanoglu B

Medeniyet medical journal 2019; (34(3)):314-317 doi:10.5222/MMJ.2019.39000.

Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review.

Li X, Chen R, Chen M

Case reports in medicine 2020; (2020()):6263721 doi:10.1155/2020/6263721.

Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome.

Chen Q, Wang X, Min J, et al.

BMC nephrology 2021; (22(1)):12 doi:10.1186/s12882-020-02211-y.

Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation.

Matos C, Correia F, da Silva IN, et al.

European journal of case reports in internal medicine 2021; (8(1)):002182 doi:10.12890/2021_002182.

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.

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.

Gitelman syndrome and ectopic calcification in the retina and joints.

Ham Y, Mack H, Colville D, et al.

Clinical kidney journal 2021; (14(9)):2023-2028 doi:10.1093/ckj/sfab034.

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 syndrome: A first published clinical association with chronic pancreatitis, a case report and review of literature.

ALSaleh N, ALJurushi R, Alotaibi R, Alzahrani M

International journal of surgery case reports 2022; (91()):106779 doi:10.1016/j.ijscr.2022.106779.

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.

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.

Gitelman syndrome: A case report.

Chen SY, Jie N

World journal of clinical cases 2022; (10(17)):5893-5898 doi:10.12998/wjcc.v10.i17.5893.

Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children.

Huseynli B, Atmış B, Cevizli D, et al.

Turkish archives of pediatrics 2022; (57(6)):644-650 doi:10.5152/TurkArchPediatr.2022.22124.

Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.

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

Nephron 2023; (147(9)):531-540 doi:10.1159/000529775.

Case report: Gitelman syndrome with diabetes: Confirmed by both hydrochlorothiazide test and genetic testing.

Yang L, Fan J, Liu Y, et al.

Medicine 2023; (102(24)):e33959 doi:10.1097/MD.0000000000033959.

Two Brothers from Macedonia with Gitelman Syndrome.

Janchevska A, Tasic V, Jordanova O, et al.

Balkan journal of medical genetics : BJMG 2023; (26(1)):69-74 doi:10.2478/bjmg-2023-0009.

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L, Tang M, Zhu L, et al.

Clinical genetics 2023; (104(6)):674-678 doi:10.1111/cge.14422.

Gitelman Syndrome and Hypertension: A Case Report.

Shaukat H, Nadeem S, Abdullah F, et al.

Cureus 2023; (15(9)):e44590 doi:10.7759/cureus.44590.

Gitelman syndrome combined with diabetes mellitus: A case report and literature review.

Huang X, Wu M, Mou L, et al.

Medicine 2023; (102(50)):e36663 doi:10.1097/MD.0000000000036663.

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.

A case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney disease.

Kondo A, Yoshiya K, Sakakibara N, et al.

CEN case reports 2024; (13(5)):326-329 doi:10.1007/s13730-024-00851-9.

The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.

Yin Y, Li L, Yu S, et al.

Frontiers in endocrinology 2023; (14()):1327729 doi:10.3389/fendo.2023.1327729.

Nephrocalcinosis fortuitously discovered: the role of surreptitious self administration of diuretics.

Sablón-González N, Morán-Calcedo L, Alonso-Ortiz MB, et al.

Caspian journal of internal medicine 2024; (15(1)):184-187 doi:10.22088/cjim.15.1.22.

Paradoxes in magnesium transport in type 1 Bartter's syndrome and Gitelman's syndrome: a modeling analysis.

Dutta P, Layton AT

American journal of physiology. Renal physiology 2024; (327(3)):F386-F396 doi:10.1152/ajprenal.00117.2024.

The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management.

Bezzeccheri A, Di Giovanni G, Belli M, et al.

Reviews in cardiovascular medicine 2022; (23(8)):289 doi:10.31083/j.rcm2308289.

Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review.

Cao Y, Hu D, Yun P, et al.

Case reports in perinatal medicine 2023; (12(1)):20210075 doi:10.1515/crpm-2021-0075.

Hypomagnesemia induces impaired glucose metabolism and insulin resistance in patients with Gitelman syndrome.

Xin Y, Yin Y, Zhu L, et al.

Diabetes research and clinical practice 2025; (223()):112160 doi:10.1016/j.diabres.2025.112160.

Gitelman syndrome with hypercalcemia and normomagnesemia: A case report.

Tan Z, Liu C, Feng Z, et al.

Medicine 2025; (104(22)):e42610 doi:10.1097/MD.0000000000042610.

Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review.

Haddiya I, Ramdani S, Kadi A, et al.

Case reports in medicine 2025; (2025()):2647228 doi:10.1155/carm/2647228.

Pregnancy complicated with Gitelman syndrome: A case report and literature review.

Zhang L, Wu X, Li N, Huo F

Medicine 2025; (104(35)):e44116 doi:10.1097/MD.0000000000044116.

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

Hebbard AI, Paizis K, Cutts BA

Obstetric medicine 2025; 1753495X251380057 doi:10.1177/1753495X251380057.

Clinical and genetic features of Gitelman syndrome patients with hyperuricemia.

Zhang L, Lv N, Zhao H, et al.

Clinical kidney journal 2025; (18(12)):sfaf311 doi:10.1093/ckj/sfaf311.