dc.contributor.author | Feldman, M. | en |
dc.contributor.author | Prikis, Marios | en |
dc.contributor.author | Athanasiou, Yiannis | en |
dc.contributor.author | Elia, Avraam | en |
dc.contributor.author | Pierides, Alkis M. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Feldman, M. | en |
dc.creator | Prikis, Marios | en |
dc.creator | Athanasiou, Yiannis | en |
dc.creator | Elia, Avraam | en |
dc.creator | Pierides, Alkis M. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.date.accessioned | 2019-11-04T12:50:33Z | |
dc.date.available | 2019-11-04T12:50:33Z | |
dc.date.issued | 2006 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53066 | |
dc.description.abstract | The 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 linkage | en |
dc.description.abstract | direct 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.source | Clinical genetics | en |
dc.source.uri | https://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.subject | Cyprus | en |
dc.subject | Greece | en |
dc.subject | age | en |
dc.subject | article | en |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | adult | en |
dc.subject | female | en |
dc.subject | Disease Progression | en |
dc.subject | priority journal | en |
dc.subject | prognosis | en |
dc.subject | clinical article | en |
dc.subject | disease course | en |
dc.subject | male | en |
dc.subject | European Continental Ancestry Group | en |
dc.subject | genetic polymorphism | en |
dc.subject | guanine | en |
dc.subject | Child | en |
dc.subject | kidney tubule acidosis | en |
dc.subject | kidney function | en |
dc.subject | DNA | en |
dc.subject | gene mutation | en |
dc.subject | Mutation | en |
dc.subject | Adolescent | en |
dc.subject | genetic analysis | en |
dc.subject | Infant | en |
dc.subject | genetic variability | en |
dc.subject | nephrolithiasis | en |
dc.subject | DNA sequence | en |
dc.subject | prenatal diagnosis | en |
dc.subject | DNA Mutational Analysis | en |
dc.subject | X-Rays | en |
dc.subject | homozygosity | en |
dc.subject | potassium | en |
dc.subject | haplotype | en |
dc.subject | Haplotypes | en |
dc.subject | Pedigree | en |
dc.subject | failure to thrive | en |
dc.subject | autosomal dominant inheritance | en |
dc.subject | genetic linkage | en |
dc.subject | tyrosine | en |
dc.subject | Child, Preschool | en |
dc.subject | linkage analysis | en |
dc.subject | family study | en |
dc.subject | Acidosis, Renal Tubular | en |
dc.subject | kidney calcification | en |
dc.subject | perception deafness | en |
dc.subject | Vacuolar Proton-Translocating ATPases | en |
dc.subject | acid base balance | en |
dc.subject | alkali | en |
dc.subject | ATPV1B1 gene | en |
dc.subject | basolateral membrane | en |
dc.subject | bicarbonate | en |
dc.subject | carbonate dehydratase | en |
dc.subject | child death | en |
dc.subject | chloride | en |
dc.subject | chloride transport | en |
dc.subject | chromosome 2 | en |
dc.subject | Distal renal tubular acidosis (dRTA) | en |
dc.subject | DNA determination | en |
dc.subject | extracorporeal lithotripsy | en |
dc.subject | Founder effect | en |
dc.subject | Genes, Recessive | en |
dc.subject | Greek Cypriot families | en |
dc.subject | Hearing Loss, Sensorineural | en |
dc.subject | hypokalemic periodic paralysis | en |
dc.subject | kidney colic | en |
dc.subject | kidney collecting tubule | en |
dc.subject | perinatal period | en |
dc.subject | proton | en |
dc.subject | proton transport | en |
dc.subject | proton transporting adenosine triphosphatase | en |
dc.subject | recessive inheritance | en |
dc.subject | rickets | en |
dc.subject | ureter stone | en |
dc.title | Molecular 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 gene | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1111/j.1399-0004.2006.00559.x | |
dc.description.volume | 69 | |
dc.description.startingpage | 135 | |
dc.description.endingpage | 144 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :16</p> | en |
dc.source.abbreviation | Clin.Genet. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |