+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin

A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin

Clinical Kidney Journal 7(3): 306-310

Our understanding of Gitelman syndrome (GS) and Bartter syndrome has continued to evolve with the use of genetic testing to more precisely define the tubular defects responsible. GS is caused by mutations in the SLC12A3 gene encoding the Na(+)-Cl(-) co-transporter of the distal convoluted tubule (NCCT) and tends to be associated with a milder salt-losing phenotype. We describe two female siblings presenting in infancy with a severe salt-losing tubulopathy and failure to thrive due to compound heterozygous mutations in the SLC12A3 gene encoding the NCCT. Both children were treated with indomethacin resulting in improved linear growth and polyuria. Some atypical biochemical findings in our cases are discussed including raised urinary prostaglandin (PGE2) excretion that normalized with intravenous fluid repletion.

(PDF emailed within 0-6 h: $19.90)

Accession: 057097222

Download citation: RISBibTeXText

PMID: 25852896

DOI: 10.1093/ckj/sfu029

Related references

Increased urinary excretion of prostaglandin e like material and kallikrein in bartters syndrome effective treatment with indomethacin. Pharmacologist 18(2): 163, 1976

Gitelman syndrome in pregnancy--a severe hypokalemia with favorable perinatal prognosis. Ceska Gynekologie 77(5): 421-423, 2013

Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome. Plos One 12(7): E0180811, 2017

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome. Journal of Korean Medical Science 31(1): 47-54, 2016

Increased renal excretion of noradrenaline in rats after treatment with prostaglandin synthesis inhibitor indomethacin. Acta Physiologica Scandinavica 85(4): 573-576, 1972

Attenuated renal excretion in response to thiazide diuretics in Gitelman's syndrome: a case report. Journal of Korean Medical Science 17(4): 567-570, 2002

Management of a severe case of Gitelman syndrome with poor response to standard treatment. Bmj Case Reports 2016, 2016

Refractory nephrotic syndrome in lupus nephritis: favorable response to indomethacin therapy. Lupus 2(1): 9-14, 1993

Indomethacin kinetics and urinary excretion of prostaglandin E2 following oral administration of various dosage forms of indomethacin. Zeitschrift für Rheumatologie 42(4): 235-241, 1983

Bartter's syndrome with normal urinary excretion of prostaglandin E: therapeutic effects of propranolol, spironolactone, indomethacin and potassium chloride. Tohoku Journal of Experimental Medicine 131(2): 151-159, 1980

A novel compound heterozygous mutation of Gitelman's syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test. Internal Medicine 51(12): 1549-1553, 2012

Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. Frontiers in Pediatrics 6: 153, 2018

Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome. Journal of the American Society of Nephrology 26(2): 468-475, 2015

Urinary prostaglandin e 2 and prostaglandin f 2 alpha excretion during sulfinpyrazone and indomethacin treatment in healthy male volunteers. Journal of Clinical Chemistry & Clinical Biochemistry 19(8): 753, 1981

Effects of indomethacin and sulindac on basal and exercise stimulated prostaglandin e 2 and prostaglandin f 2 alpha excretion in women. Physiologist: 266, 1984