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Titolo:
Cyclic Neutropenia with mutation in the gene encoding neutrophil elastase (ELA2)
Autore:
Schiller, M; Bohm, M; Zeidler, C; Germeshausen, M; Welte, K; Luger, TA; Bonsmann, G;
Indirizzi:
Univ Klinikum Munster, Klin & Poliklin Hautkrankheiten, D-48149 Munster, Germany Univ Klinikum Munster Munster Germany D-48149 , D-48149 Munster, Germany Hannover Med Sch, Abt Padiat Hamatol & Onkol, Hannover, Germany Hannover Med Sch Hannover Germany at Hamatol & Onkol, Hannover, Germany Hannover Med Sch, SCNIR, Datenkoordinat Zentrum Europa, Zentrum Kinderheilkunde, Hannover, Germany Hannover Med Sch Hannover Germany um Kinderheilkunde, Hannover, Germany
Titolo Testata:
HAUTARZT
fascicolo: 9, volume: 52, anno: 2001,
pagine: 790 -
SICI:
0017-8470(200109)52:9<790:CNWMIT>2.0.ZU;2-P
Fonte:
ISI
Lingua:
GER
Soggetto:
G-CSF; CONGENITAL NEUTROPENIA; FOLLOW-UP; LEUKEMIA; HEMATOPOIESIS; MANIFESTATION; MANAGEMENT; THERAPY;
Keywords:
cyclic neutropenia; severe chronic neutropenia (SCN); recurrent oral aphthae; granulocyte colony stimulating factor (G-CSF); filgrastim; neutrophil elastase;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Schiller, M Univ Klinikum Munster, Klin & Poliklin Hautkrankheiten, Von Esmarchstr 58,D-48149 Munster, Germany Univ Klinikum Munster Von Esmarchstr 58 Munster Germany D-48149
Citazione:
M. Schiller et al., "Cyclic Neutropenia with mutation in the gene encoding neutrophil elastase (ELA2)", HAUTARZT, 52(9), 2001, pp. 790

Abstract

Background and Objective. Cyclic neutropenia is a rare congenital hematopoietic disease which occurs sporadically or as an autosomal dominantly inherited disorder. Recently,the locus for cyclic neutropenia was mapped to chromosome 19p13.3. Autosomal dominant and sporadic cyclic neutropenia are now attributable to mutations of the ELA2 gene encoding neutrophil elastase. Patients/Methods. Based on a case report we review the clinical picture and diagnostic criteria of cyclic neutropenia and report about the recent molecular biological findings and current treatment options. Results. Serial blood cell counts revealed the characteristic oscillationsof the circulating neutrophils with 21-day periodicity from near normal toextremely low levels. The neutrophil nadir lasted 3-5 days. The neutropenia was associated with fever, malaise, painful oral aphthous ulcers and lymphadenopathy. Mutational analysis of the patient's genomic DNA revealed a single basepair transition (nt 4716, G -->A) in intron 4 of ELA2. Since the initiation of therapy with subcutaneous recombinant human granulocyte-stimulating colony factor (rHuG-CSF) 24 months ago, the patient has been free of symptoms. Conclusions. Despite the typical medical history with onset of the symptoms in early infancy the diagnosis of cyclic neutropenia was not established until the age of 9 years. A common reason for the delayed diagnosis of cyclic neutropenia may be unawareness of the rare but distinctive disorder and the practice of obtaining screening blood counts without leukocyte differentials. Patients with cyclic neutropenia should be enrolled to the Severe Chronic Neutropenia International Registry (SCNIR).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 07:28:29