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dc.contributor.authorKonrad, Martin
dc.contributor.authorOrhan, Yusuf
dc.contributor.authorAral, Ferihan
dc.contributor.authorOzbey, Nese
dc.contributor.authorKutluturk, Faruk
dc.contributor.authorTemel, Berna
dc.contributor.authorUsla, Bora
dc.contributor.authorAzezil, Adil
dc.date.accessioned2021-03-03T10:42:06Z
dc.date.available2021-03-03T10:42:06Z
dc.date.issued2006
dc.identifier.citationKutluturk F., Temel B., Usla B., Aral F., Azezil A., Orhan Y., Konrad M., Ozbey N., "An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of paracellin-1", HORMONE RESEARCH, cilt.66, sa.4, ss.175-181, 2006
dc.identifier.issn0301-0163
dc.identifier.otherav_241d8100-1fd9-4c6c-bfc2-965086371699
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/29186
dc.identifier.urihttps://doi.org/10.1159/000094253
dc.description.abstractA 19-year-old female patient with hypercalciuria and recurrent nephrolithiasis/urinary tract infection unresponsive to thiazide type diuretics is presented. The patient first experienced nephrolithiasis at the age of 4 years. Afterwards, recurrent passages of stones and urinary tract infection occurred. On diagnostic evaluation at the age of 19 years, she also had hypocitraturia and hypomagnesemia. Her serum calcium concentrations were near the lower limit of normal (8.5-8.8 mg/dl; normal range: 8.5-10.5), her serum magnesium concentrations were 1.15-1.24 mg/dl (normal range: 1.4-2.5) and urinary calcium excretion was 900 mg/24 h. PTH concentrations were increased (110-156 pg/ml; normal range: 10-65). We tried to treat the patient with hydrochlorothiazide at a dose of 50 mg/day. During treatment with thiazide diuretics, PTH concentration remained high and the patient had recurrent urinary tract infections and passages of stones. Serum magnesium concentration did not normalize even under the parenteral magnesium infusion. Her mother had a history of nephrolithiasis 20 years ago. Severe hypomagnesemia in association with hypercalciuria/urinary stones is reported as a rare autosomal recessive disorder caused by impaired reabsorption of magnesium and calcium in the thick assending limp of Henle's loop. Recent studies showed that mutations in the CLDN16 gene encoding paracellin-1 cause the disorder. In exon 4, a homozygous nucleotide exchange (G679C) was identified for the patient. This results in a point mutation at position Glycine227, which is replaced by an Arginine residue (G227R). The mother was heterozygous for this mutation. G227 is located in the fourth transmembrane domain and is highly conserved in the claudin gene family. This case indicates the pathogenetic role of paracellin-1 mutation in familial hypomagnesemia with hypercalciuria and nephrocalcinosis and further underlines the risk of stone formation in heterozygous mutation carriers. Copyright (c) 2006 S. Karger AG, Basel.
dc.language.isoeng
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectİç Hastalıkları
dc.titleAn unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of paracellin-1
dc.typeMakale
dc.relation.journalHORMONE RESEARCH
dc.contributor.department, ,
dc.identifier.volume66
dc.identifier.issue4
dc.identifier.startpage175
dc.identifier.endpage181
dc.contributor.firstauthorID177346


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