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Titolo:
Familial dysautonomia: A diagnostic dilemma. Chronic lung disease with signs of an autoimmune disease
Autore:
van Egmond-Frohlich, AWA; Paul, K; Eggert, W; Gaedicke, G; Wahn, U; Bauer, CP;
Indirizzi:
Kinderklin St Marien, Landshut, Germany Kinderklin St Marien Landshut Germany klin St Marien, Landshut, Germany Humboldt Univ, Charite Virchow Med Ctr, Dept Pediat, Berlin, Germany Humboldt Univ Berlin Germany chow Med Ctr, Dept Pediat, Berlin, Germany Fachklin Kinder & Jugendliche, Gaissach, Germany Fachklin Kinder & Jugendliche Gaissach Germany liche, Gaissach, Germany
Titolo Testata:
PEDIATRIC PULMONOLOGY
fascicolo: 6, volume: 31, anno: 2001,
pagine: 478 - 481
SICI:
8755-6863(200106)31:6<478:FDADDC>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Keywords:
autoantibodies; autoimmune diseases; child; collagen vascular diseases; swallowing disorders; familial dysautonomia; orthostatic hypotension; aspiration pneumonia; respiratory tract diseases; respiratory control; sleep apnea syndromes; systemic lupus erythematosus; Riley-Day syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
6
Recensione:
Indirizzi per estratti:
Indirizzo: van Egmond-Frohlich, AWA Fachklin Kinder & Jugend Rehabil, Elly Kutscher Str 16, D-06628 Bad Kosen,Germany Fachklin Kinder & Jugend Rehabil Elly Kutscher Str 16 Bad Kosen Germany D-06628
Citazione:
A.W.A. van Egmond-Frohlich et al., "Familial dysautonomia: A diagnostic dilemma. Chronic lung disease with signs of an autoimmune disease", PEDIAT PULM, 31(6), 2001, pp. 478-481

Abstract

We present an 11-year-old girl with sensory and autonomic neurological dysfunction, and respiratory insufficiency caused by recurrent aspiration. Thediagnosis of familial dysautonomia (FD) was confirmed by a missing axonal flare to histamine, miosis in response to conjunctival methacholine and homozygous polymorphic linked markers DS58(18) and DS159(7) on chromosome 9. Ashkenazi Jewish descent could not be ascertained by history. A variety of positive tests for autoantibodies were initially interpreted as evidence forsystemic lupus erythematosus vs. overlap syndrome with pulmonary, cerebral, skin, and ocular involvement. The diagnosis of FD was delayed because of the rarity of this disorder in Germany (second case reported). We discuss possible explanations for the misleading immunological findings, including interference by antibodies binding to milk proteins used as blocking reagents in enzyme-linked immunoassays and circulating immune-complexes due to chronic aspiration pneumonitis. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 02:52:40