Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Bruton disease – case presentation and relevant studies comments

Revista Romana de PEDIATRIE | Volumul LXII, Nr. 3, An 2013

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Costin Nuţă and Ioan Gherghina

ABSTRACT

Bruton disease is a primary immunodeficiency consisting in severe hypogammaglobulinemia with a serious decrease of B cells by mutations at the level of Btk gene, causing severe recurrent infections that may result in death. Objectives. Presentation of a suggestive case of severe hypogammaglobulinemia with invalidating infectious complications up to the date when the Bruton disease diagnosis was set and the substitution treatment was initiated. Methods. From all cases treated by us as part of the Primary Immunodeficiency Program conducted within “Alfred Rusescu” IOMC, a Bruton disease case was selected; such case displayed specific clinical symptoms, diagnosis methods, treatment and evolution while it was under examination. Results. The selected case was characterized by an early onset of lung infectious complications that resulted in right basal bronchiectasis and osteo-articular infections. The Bruton disease diagnosis was set at the age of 15, when the substitution treatment was initiated. Such treatment improved the prognosis. Conclusions. The presence of frequent and severe infectious episodes in children requires the physician to analyze the possibility of a congenital immunodeficiency. In Bruton disease, the immunoglobulin substitution treatment is the first line treatment.

Key words: Bruton disease, XLA, X linked agammaglobulinemia, hypogammaglobulinemia

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Costin Nuţă

BOALA BRUTON – PREZENTARE DE CAZ SI COMENTARII DIN LITERATURA

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

Costin Nuţă and Ioan Gherghina

REZUMAT

Boala Bruton reprezintă o imunodeficienţă primară caracterizată prin hipogamaglobulinemie severă, cu scăderea drastică a limfocitelor B prin mutaţii la nivelul genei Btk, având drept consecinţă infecţii recurente severe ce pot evolua până la deces.

Obiective. Prezentarea unui caz sugestiv pentru o hipogamaglobulinemie severă cu complicaţii infecţioase invalidante până la momentul precizării diagnosticului de boală Bruton şi introducerii tratamentului substitutiv.

Metode. Din cazuistica noastră, parte a Programului de Imunodeficienţe Primare din cadrul IOMC „Alfred Rusescu“, a fost selectat un caz de boală Bruton, fiind prezentate manifestările clinice caracteristice, metodele de diagnostic, tratamentul şi evoluţia pe durata monitorizării.

Rezultate. Cazul selectat s-a caracterizat prin debut precoce al complicaţiilor infecţioase pulmonare care s-au soldat cu bronşiectazie bazală dreaptă şi infecţii osteoarticulare. Diagnosticul de boală Bruton a fost precizat la vârsta de 15 ani, când s-a introdus tratament substitutiv care a ameliorat prognosticul.

Concluzii. Prezenţa unor episoade infecţioase frecvente şi severe la copil impune explorarea unei imunodeficienţe congenitale. În boala Bruton tratamentul substitutiv imunoglobulinic este de primă linie.

Cuvinte cheie: boala Bruton, XLA, agamaglobulinemie X linkată, hipogamaglobulinemie

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Costin Nuţă