ABSTRACT
There are few reports about congenital indifference to pain or Hereditary and Sensory Autonomic Neuropathy [HSAN]. Several investigations for pathophysiology of this syndrome have been performed and different classifications about it. In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy-like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation
Subject(s)
Humans , Male , Hereditary Sensory and Autonomic Neuropathies/diagnosis , Diagnosis, Differential , Phagocyte Bactericidal Dysfunction/diagnosisABSTRACT
Se realiza una revisión sobre los defectos presentes en la función de los fagocitos que provocan trastornos inmunitarios. Se exponen las características clínicas, moleculares e inmunológicas que caracterizan a cada desorden fagocítico, así como los métodos de laboratorio utilizados para el diagnóstico de estos. Se hace referencia a los tratamientos terapéuticos efectivos que eliminan o atenúan las manifestaciones clínicas de cada defecto de la fagocitosis estudiado.
Subject(s)
Humans , Phagocyte Bactericidal Dysfunction/diagnosis , Phagocyte Bactericidal Dysfunction/genetics , Phagocyte Bactericidal Dysfunction/immunology , PhagocytosisSubject(s)
Humans , Neutropenia/physiopathology , Phagocyte Bactericidal Dysfunction/etiology , Leukocyte-Adhesion Deficiency Syndrome/physiopathology , Chemotaxis/physiology , Neutropenia/classification , Neutropenia/etiology , Phagocyte Bactericidal Dysfunction/diagnosis , Chediak-Higashi Syndrome/surgery , Chediak-Higashi Syndrome/diagnosis , Chediak-Higashi Syndrome/drug therapy , Leukocyte-Adhesion Deficiency Syndrome/diagnosis , Job Syndrome/physiopathology , Job Syndrome/immunologyABSTRACT
Os autores apresentam os principais achados clínicos e laboratoriais de 16 crianças portadoras de distúrbios de fagócitos atendidas no Ambulatório de Imunopatologia do Instituto da Criança "Prof. Pedro de Alcantara". Os diagnósticos verificados foram Doença Granulomatosa Crônica da Infância (B), Síndrome de Chediak-Higashi (3), Neutropenia Persistente (3), Síndrome de Job (1) e Defeito de Quimiotaxia (1). Estes pacientes constituem 20% dos casos de Imunodeficiências Primárias de nossa casuística e as principais manifestaçöes clínicas foram de infecçöes piogênicas recorrentes, acometendo pele, mucosa oral e trato respiratório, com a formçäo de abcessos. Acompanham o quadro clínico, hepatoesplenomegalia e adenomegalia supurativa. O presente trabalho destaca a importância da pesquisa destes distúrbios da imunidade para que o tratamento seja instituído precocemente