Variantes genéticas em criança com pancreatite aguda recorrente: um relato de caso
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Abstract
Pancreatite aguda recorrente é definida por dois ou mais episódios distintos de pancreatite aguda com ausência de manifestações e alterações laboratoriais no intervalo entre os quadros. Estudos multicêntricos identificaram três principais genes associados a esses quadros: PRSS1; SPINK1 e CFTR. O presente estudo descreve o caso de uma paciente de 3 anos com duas internações por pancreatite aguda, em que a investigação etiológica identificou variações nos genes PRSS1 e CFTR. Mutações genéticas são mais prevalentes no sexo feminino e pacientes com história familiar de pancreatite. Constituem fatores de risco para desenvolvimento precoce de pancreatite crônica, além de Diabetes Mellitus e câncer de pâncreas. A pancreatite aguda recorrente causa impacto na qualidade de vida e na saúde mental, devido à dor crônica e repetidas hospitalizações. A identificação de alterações genéticas auxilia no seguimento desses quadros, previne complicações e evita a realização de procedimentos desnecessários.
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