Publication:
Differential diagnosis of classical Bartter syndrome and Gitelman syndrome: Do we need genetic analysis?

Simple item page
dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorsGuven, Sercin; Gokce, Ibrahim; Alavanda, Ceren; Cicek, Neslihan; Demirci, Ece Bodur; Sak, Mehtap; Pul, Serim; Turkkan, Ozde Nisa; Yildiz, Nurdan; Ata, Pinar; Alpay, Harika
dc.date.accessioned2022-03-14T09:51:27Z
dc.date.available2022-03-14T09:51:27Z
dc.date.issued2021-10-31
dc.description.abstractObjective: Classical Bartter syndrome (cBS) and Gitelman syndrome (GS) are genotypically distinct, but there is a phenotypic overlap among these two diseases, which can complicate the accurate diagnosis without genetic analysis. This study aimed to evaluate the correlation between clinical and genetic diagnoses among patients who have genetically defined cBS and GS. Patients and Methods: The study included 18 patients with homozygous/compound heterozygous CLCNKB (NM_000085) (n:10/18) and SLC12A3 (NM_000339) (n:8/18) mutations. Biochemical, clinical and radiological data were collected at presentation and at the last visit. Results: In cBS group age at diagnosis, median plasma potassium and chloride concentrations were significantly lower and median plasma HCO3 and blood pH values were significantly higher. Patients with GS had significantly lower median plasma magnesium concentrations and urinary calcium/creatinine ratio. One child with GS had normocalciuria, two children with cBS had hypocalciuria and hypomagnesemia. Low estimated glomerular filtration rate (eGFR) (ml/dk/1.73m2) and growth failure were more evident in cBS group. In patients with cBS, nine different CLCNKB gene mutations were detected, five of them were novel. Novel mutations were: one nonsense (c.66G>A, p.Trp22*), one missense (c.499G>A, p.Gly167Ser) and three splice-site (c.867-2delA; c.499-2insG; c.19302A>C) mutations. In patients with GS, six different SLC12A3 gene mutations were found. Conclusions: It may not always be possible to clinically distinguish cBS from GS. We suggest to perform a genotypic classification if genetic analysis is possible.
dc.identifier.doi10.5472/marumj.1012351
dc.identifier.issn1309-9469
dc.identifier.urihttps://hdl.handle.net/11424/243340
dc.identifier.wosWOS:000715083000006
dc.language.isoeng
dc.publisherMARMARA UNIV, FAC MEDICINE
dc.relation.ispartofMARMARA MEDICAL JOURNAL
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBartter syndrome
dc.subjectGitelman syndrome
dc.subjectKidney tubuler disease
dc.subjectHypokalemic metabolic alkalosis
dc.subjectCHLORIDE CHANNEL GENE
dc.subjectHYPOKALEMIC ALKALOSIS
dc.subjectMUTATIONS
dc.subjectCLCNKB
dc.subjectSPECTRUM
dc.subjectVARIANTS
dc.titleDifferential diagnosis of classical Bartter syndrome and Gitelman syndrome: Do we need genetic analysis?
dc.typearticle
dspace.entity.typePublication
local.avesis.id26cd0713-0666-45c7-8854-6370c1345f76
local.import.packageSS16
local.indexed.atWOS
local.journal.numberofpages6
oaire.citation.endPage259
oaire.citation.issue3
oaire.citation.startPage254
oaire.citation.titleMARMARA MEDICAL JOURNAL
oaire.citation.volume34
relation.isAuthorOfPublication2ad76025-5a7e-429e-8f0a-3da70e4561a5
relation.isAuthorOfPublication.latestForDiscovery2ad76025-5a7e-429e-8f0a-3da70e4561a5

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Guven et al. - 2021 - Differential diagnosis of classical Bartter syndro.pdf
Size:
258.02 KB
Format:
Adobe Portable Document Format
Download

Collections

Research Outputs