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Clinical analysis of a Chinese child with leukocyte adhesion deficiency type 1 / 中华儿科杂志
Chinese Journal of Pediatrics ; (12): 531-534, 2013.
Artículo en Chino | WPRIM | ID: wpr-275660
ABSTRACT
<p><b>OBJECTIVE</b>Leukocyte adhesion deficiency type 1 (LAD-I) is rare. We present 1 case of LAD-I patient diagnosed by gene analysis. His clinical manifestations and genetic mutation features are analyzed in this article.</p><p><b>METHOD</b>The clinical material of the LAD-I patient who was diagnosed by gene analysis was retrospectively analyzed.</p><p><b>RESULT</b>The patient was a 2-month-old boy. He had a complaint of recurrent fever and cough for 30 days. Pulmonary CT indicated a small to moderate quantity pleural effusion on the right side. His peripheral blood leukocyte and C-reactive protein (CRP) was always significantly higher than normal. After hospitalization he had diarrheal diseases, routine stool test showed 2 RBC cells/high power (HP), WBC 30 cells/HP, stool cultures were negative, digestive tract ultrasonography showed an array of defects, in the sigmoid colon and rectal mucosa suggestive of ulcerative colitis. He was treated with cefoperazone and sulbactam and vancomycin. He had a history of impetigo in his neonatal period and without delayed umbilical cord exfoliation. His family history was normal. ITGB2 genetic mutation analysis revealed a homozygous mutation (1062A > T). His parents did not participate in this study. He had no fever but had diarrheal disease after 1 month of follow up.</p><p><b>CONCLUSION</b>This patient had suffered from impetigo, pleural effusion, diarrheal diseases, markedly increased peripheral white blood cell and ITGB2 genetic mutation analysis showed that homozygous mutation (1062A > T). He received a diagnosis of LAD-I.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Derrame Pleural / Análisis Mutacional de ADN / Colitis Ulcerosa / Reacción en Cadena de la Polimerasa / Estudios Retrospectivos / Mutación Puntual / Síndrome de Deficiencia de Adhesión del Leucocito / Proteínas del Citoesqueleto / Pueblo Asiatico / Diagnóstico Tipo de estudio: Estudio diagnóstico / Estudio observacional Límite: Humanos / Lactante / Masculino Idioma: Chino Revista: Chinese Journal of Pediatrics Año: 2013 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Derrame Pleural / Análisis Mutacional de ADN / Colitis Ulcerosa / Reacción en Cadena de la Polimerasa / Estudios Retrospectivos / Mutación Puntual / Síndrome de Deficiencia de Adhesión del Leucocito / Proteínas del Citoesqueleto / Pueblo Asiatico / Diagnóstico Tipo de estudio: Estudio diagnóstico / Estudio observacional Límite: Humanos / Lactante / Masculino Idioma: Chino Revista: Chinese Journal of Pediatrics Año: 2013 Tipo del documento: Artículo