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Titolo:
Phenotypic variability in Bartter syndrome type I
Autore:
Bettinelli, A; Ciarmatori, S; Cesareo, L; Tedeschi, S; Ruffa, G; Appiani, AC; Rosini, A; Grumieri, G; Mercuri, B; Sacco, M; Leozappa, G; Binda, S; Cecconi, M; Navone, C; Curcio, C; Syren, ML; Casari, G;
Indirizzi:
Clin Pediat De Marchi, I-20122 Milan, Italy Clin Pediat De Marchi Milan Italy I-20122 e Marchi, I-20122 Milan, Italy Univ Milan, Dept Pediat 2, Milan, Italy Univ Milan Milan ItalyUniv Milan, Dept Pediat 2, Milan, Italy Telethon Inst Genet & Med, Milan, Italy Telethon Inst Genet & Med Milan Italy on Inst Genet & Med, Milan, Italy Ist Clin Perfezionamento, Dept Mol Med, Milan, Italy Ist Clin Perfezionamento Milan Italy amento, Dept Mol Med, Milan, Italy Hosp Genova Gaslini, Dept Pediat, Genoa, Italy Hosp Genova Gaslini GenoaItaly nova Gaslini, Dept Pediat, Genoa, Italy Hosp Ancona, Dept Pediat, Ancona, Italy Hosp Ancona Ancona ItalyHosp Ancona, Dept Pediat, Ancona, Italy Ist Clin Perfezionamento, Pediat Radiol Serv, Milan, Italy Ist Clin Perfezionamento Milan Italy , Pediat Radiol Serv, Milan, Italy Hosp Catanzaro, Dept Pediat, Catanzaro, Italy Hosp Catanzaro Catanzaro Italy Catanzaro, Dept Pediat, Catanzaro, Italy Bambino Gesu Hosp, Dept Pediat Nephrol, Rome, Italy Bambino Gesu Hosp Rome Italy esu Hosp, Dept Pediat Nephrol, Rome, Italy
Titolo Testata:
PEDIATRIC NEPHROLOGY
fascicolo: 10-11, volume: 14, anno: 2000,
pagine: 940 - 945
SICI:
0931-041X(200009)14:10-11<940:PVIBST>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYPOKALEMIC ALKALOSIS; NEONATAL VARIANT; MUTATIONS; HYPERCALCIURIA; COTRANSPORTER; ACIDOSIS; INFANTS; CHANNEL; NKCC2; GENE;
Keywords:
Bartter syndrome; hypokalemia; nephrocalcinosis; hypercalciuria; metabolic alkalosis; bumetanide-sensitive cotransporter gene nephrogenic diabetes insipidus;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Bettinelli, A Clin Pediat De Marchi, Via Commenda 9, I-20122 Milan, Italy Clin Pediat De Marchi Via Commenda 9 Milan Italy I-20122 ly
Citazione:
A. Bettinelli et al., "Phenotypic variability in Bartter syndrome type I", PED NEPHROL, 14(10-11), 2000, pp. 940-945

Abstract

Limited phenotypic variability has been reported in patients with Bartter syndrome type I, with mutations in the Na-K-2Cl cotransporter gene (BSC). The diagnosis of this hereditary renal tubular disorder is usually made in the antenatal-neonatal period, due to the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis. Among nine children with hypercalciuria and nephrocalcinosis, weidentified new mutations consistent with a loss of function of the mutant allele of the BSC gene in five. Three of the five cases with BSC gene mutations were unusual due to the absence of hypokalemia and metabolic alkalosisin the first years of life. The diagnosis of incomplete distal renal tubular acidosis was considered before molecular evaluation. Three additional patients with hypokalemia and hypercalciuria. but without nephrocalcinosis inthe first two and with metabolic acidosis instead of alkalosis in the third, were studied. Two demonstrated the same missense mutation A555T in the BSC gene as one patient of the previous group, suggesting a single common ancestor. The third patient presented with severe hypernatremia and hyperchloremia for about 2 months, and a diagnosis of nephrogenic diabetes insipiduswas hypothesized until the diagnosis of Bartter syndrome type I was established by molecular evaluation. We conclude that in some patients with Bartter syndrome type I, hypokalemia and/or metabolic alkalosis may be absent inthe first years of life and persistent metabolic acidosis or hypernatremiaand hyperchloremia may also be present. Molecular evaluation can definitely establish the diagnosis of atypical cases of this complex hereditary tubular disorder, which, in our experience, may exhibit phenotypic variability.

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Documento generato il 05/06/20 alle ore 11:30:52