Drepanocitosis. Revisió dels casos controlats en el nostre hospital en els últims 5 anys / Drepanocitosis: revision de los casos controlados en nuestro hospital en los últimos 5 años / Sickle-cell disease: a review of the 5-year experience of a single institution

RESUMEN

Fonament. La drepanocitosis és una malaltia emergent a Catalunya, degut a l’augment de la immigració Subsahariana. L’alta prevalença en aquesta població de l’hemoglobonopatia, junt a les múltiples complicacions que se’n deriven fa necessari un control sistemàtic. Objectiu. Revisió dels casos de drepanocitosis controlats en el nostre centre, per a observar el moment del diagnòstic, el seguiment i les complicacions. Mètode. Revisió retrospectiva de les històries clíniques dels pacients afectes de drepanocitosis. S’han recollit dades de filiació, antecedents relatius a la malaltia, complicacions i tractaments. Criteris d’inclusió Edat inferior a 14 anys, Hb SS, Hb SC i Hb Sbetatalassèmia. Resultats. S’estudien 10 pacients 5 nens/ 5 nenes. Edat 3 mesos-13 anys. Origen 8 Gàmbia i 2 Guinea. Tipus d’hemoglobinopatia Hb SS en 9 casos i Hb SC en 1 cas. Diagnòstic més precoç als 3 mesos i més tardà als 5 anys. Motiu del diagnòstic 6 casos per complicacions, 2 casos en el seu país d’origen, 1 cas per estudi familiar, no dades en 1 cas. Complicacions Ingrés per infeccions pulmonars o bronquials en 7 pacients, crisis vasoclusives en 6 pacients, ITU en 1 pacient, AVC en 1 pacient i sepsis en 1 pacient. Set pacients han requerit transfusions. Mortalitat en 2 pacients. Profilaxis antibiòtica i vacunació en 6 casos. Tractament amb àcid fòlic en 8 nens. Conclusions. La majoria dels nostres pacients s’han diagnosticat arrel d’una complicació. Volem destacar l’alt número d’ingressos per complicacions pulmonars, superiors als ingressos per crisis vasoclusives. Cal ressenyar l’alta incidència de complicacions greus. Considerem la necessitat d’un screening neonatal a la població de risc per a iniciar tractament profilàctic de forma precoç i disminuir la incidència de complicacions (AU)

ABSTRACT

Background. The incidence of sickle cell disease is increasing in Catalonia, due to the increase in the population of subsaharian origin. The high prevalence of sicklecell disease (and its complications) in this population makes necessary a systematic evaluation. Objective. To review the cases of sickle cell disease seen in our institution, and to describe the diagnosis, follow-up and complications of this disease. Method. Retrospective review of the clinical records of the children diagnosed with sickle cell disease. Data obtained included patient demographics, family history of hemoglopbinopathy, complications, and treatment. Inclusion criteria were age less than 14 years, and diagnosis of Hb SS, Hb SC or Hb S-Beta-thalassemia. Results. Ten patients were included in the study. There were 5 boys and 5 girls, and age range was 3-13 years. Country of origin was Gambia in 8 cases, and Guinea in 2 cases. Nine patients had Hb SS disease, and 1 patient had Hb Sc disease. The diagnosis of sickle cell disease was made after a vaso-occlusive complication in 6 cases. In 2 cases, the diagnosis had already been made in the country of origin, in 1 case after a family diagnostic work-up, and in one case the date and reason for the diagnosis were not available. Seven patients required admission for acute chest syndrome, 6 patients developed vaso-occlusive crises, one patient had a urinary tract infection, one patient had a cerebro-vascular accident, and one patient had sepsis. Seven patients have required transfusions. Six patients were given antibiotic prophylaxis and were also immunized, and 8 patients received folic acid supplementation. Two patients died of sickle-cell related complications. Conclusions. Most of our patients were diagnosed following a sickle cell related complication. The number of admissions for pulmonary complications were higher than for vaso-occlusive crises, and we observed a high number of severe complications. There is a need for an adequate newborn screening of the population at risk in order to start early antibiotic prophylaxis and decrease the incidence of complications (AU)