RESUMO
Severe combined immunodeficiency (SCID) encompasses a group of genetic defects. T cell development is universally affected and has alteration of B and/or NK cells. We present the case of a 5-day-old boy with combined heterozygous frame shift (c.256_257del, p.(Lys86Valfs*33)) and missense (c.1186C>T, p.(Arg396Cys)) variations in the RAG1 gene. He was admitted to our institution because of 0 TREC on Newborn Screen and worsening rash. Initially thought to have Omenn syndrome versus maternal engraftment with graft versus host disease, DNA analysis identified the noted mutations and he subsequently received a bone marrow transplant from a matched sibling.
Assuntos
Triagem Neonatal/métodos , Doenças Raras/diagnóstico , Imunodeficiência Combinada Severa/diagnóstico , Diagnóstico Diferencial , Humanos , Recém-Nascido , Doenças Raras/genética , Doenças Raras/terapia , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/terapiaRESUMO
Hypersensitivity to the components of parenteral nutrition (PN) is a rare but important complication of PN. We performed a systematic review of hypersensitivity to PN to enable us to build an approach to the individual patient who presents with PN hypersensitivity. A systematic literature search was performed in Ovid Medline, CINAHL, Scopus, and Web of Science using terms for "hypersensitivity" AND "parenteral nutrition" and relevant synonyms. A total of 28 articles were analyzed, and 33 hypersensitivities to PN or components of PN were reported in these 28 articles. Reports of hypersensitivity and subsequent conclusions were based on the clinical observations made by each reporting author. These reactions were evenly split between pediatric and adult patients. Hypersensitivity to PN occurred on day of starting PN in 60.6% patients and after that time in 36.3% patients (range: 1-21 days). Of the hypersensitivities that occurred on day 1 of PN, 70% occurred in the first 30 minutes of initiation of PN. Cutaneous manifestations were the most common, followed by anaphylaxis, respiratory symptoms, and hemodynamic instability. The components most frequently identified as allergens were intravenous fat emulsion (48.4%), multivitamin solution (33.3%), and amino acid solution (9%). Based on this review, an algorithm was created to guide the practitioner on management of PN after the occurrence of such a reaction.