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dc.contributor.authorFeldman, M.en
dc.contributor.authorPrikis, Mariosen
dc.contributor.authorAthanasiou, Yiannisen
dc.contributor.authorElia, Avraamen
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.creatorFeldman, M.en
dc.creatorPrikis, Mariosen
dc.creatorAthanasiou, Yiannisen
dc.creatorElia, Avraamen
dc.creatorPierides, Alkis M.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:50:33Z
dc.date.available2019-11-04T12:50:33Z
dc.date.issued2006
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53066
dc.description.abstractThe spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal part of acid-base homeostasis, which is partly achieved by the regulated luminal secretion of H+ at the apical surfaceof the α-intercalated cells of renal collecting ducts. This is coupled tobicarbonate reabsorption with chloride counter transport across the basolateral membranes Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. DNA linkage analysis with four polymorphic markers flanking the ATP6V1B1 gene on chromosome 2 gave evidence for positive linkageen
dc.description.abstractdirect DNA analysis byautomated DNA sequencing revealed that patients in one family were homozygous for mutation 229+1G>T (IVS7+1G>T) and that patients in the second family were compound heterozygous for 229+1G>T andR157C. The mutations were found on four different haplotypes. Both the mutations were previously reported in patients of Turkish origin.Three known polymorphic variants were also identified. The five patients demonstrated the whole clinical spectrum of the disease including death in infancy, failure to thrive, rickets, nephrocalcinosis, nephrolithiasis, and episodes of hypokalemic paralysis. Some of the family members are now in their mid 30s and late 20s, and nephrolithiasis with recurrent renal colics is their main problem. Renal function has remained normal. In conclusion, early diagnosis in infancy and prompt treatment with alkali and potassium supplements is of great benefit to the patient with dRTA and ensures normal growth. The identification of responsible mutations facilitates antenatal or postnatal diagnosis in concerned families and improves the prognosis. © Blackwell Munksgaard, 2006.en
dc.sourceClinical geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-33644860224&doi=10.1111%2fj.1399-0004.2006.00559.x&partnerID=40&md5=ecde4f36e947699e76723badb0a2c227
dc.subjectCyprusen
dc.subjectGreeceen
dc.subjectageen
dc.subjectarticleen
dc.subjecthumanen
dc.subjectHumansen
dc.subjectadulten
dc.subjectfemaleen
dc.subjectDisease Progressionen
dc.subjectpriority journalen
dc.subjectprognosisen
dc.subjectclinical articleen
dc.subjectdisease courseen
dc.subjectmaleen
dc.subjectEuropean Continental Ancestry Groupen
dc.subjectgenetic polymorphismen
dc.subjectguanineen
dc.subjectChilden
dc.subjectkidney tubule acidosisen
dc.subjectkidney functionen
dc.subjectDNAen
dc.subjectgene mutationen
dc.subjectMutationen
dc.subjectAdolescenten
dc.subjectgenetic analysisen
dc.subjectInfanten
dc.subjectgenetic variabilityen
dc.subjectnephrolithiasisen
dc.subjectDNA sequenceen
dc.subjectprenatal diagnosisen
dc.subjectDNA Mutational Analysisen
dc.subjectX-Raysen
dc.subjecthomozygosityen
dc.subjectpotassiumen
dc.subjecthaplotypeen
dc.subjectHaplotypesen
dc.subjectPedigreeen
dc.subjectfailure to thriveen
dc.subjectautosomal dominant inheritanceen
dc.subjectgenetic linkageen
dc.subjecttyrosineen
dc.subjectChild, Preschoolen
dc.subjectlinkage analysisen
dc.subjectfamily studyen
dc.subjectAcidosis, Renal Tubularen
dc.subjectkidney calcificationen
dc.subjectperception deafnessen
dc.subjectVacuolar Proton-Translocating ATPasesen
dc.subjectacid base balanceen
dc.subjectalkalien
dc.subjectATPV1B1 geneen
dc.subjectbasolateral membraneen
dc.subjectbicarbonateen
dc.subjectcarbonate dehydrataseen
dc.subjectchild deathen
dc.subjectchlorideen
dc.subjectchloride transporten
dc.subjectchromosome 2en
dc.subjectDistal renal tubular acidosis (dRTA)en
dc.subjectDNA determinationen
dc.subjectextracorporeal lithotripsyen
dc.subjectFounder effecten
dc.subjectGenes, Recessiveen
dc.subjectGreek Cypriot familiesen
dc.subjectHearing Loss, Sensorineuralen
dc.subjecthypokalemic periodic paralysisen
dc.subjectkidney colicen
dc.subjectkidney collecting tubuleen
dc.subjectperinatal perioden
dc.subjectprotonen
dc.subjectproton transporten
dc.subjectproton transporting adenosine triphosphataseen
dc.subjectrecessive inheritanceen
dc.subjectricketsen
dc.subjectureter stoneen
dc.titleMolecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 geneen
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1111/j.1399-0004.2006.00559.x
dc.description.volume69
dc.description.startingpage135
dc.description.endingpage144
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :16</p>en
dc.source.abbreviationClin.Genet.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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