Pediatric sickle cell disease: past successes and future challenges

Abstract

Once a fatal disease of childhood, more than 95% of patients born today with sickle cell disease (SCD) in developed countries are expected to survive into adulthood, largely because of improvements in supportive and preventive care (newborn screening, penicillin prophylaxis, transcranial Doppler (TCD) screening). Hydroxyurea (HU) therapy, the only oral medication currently available to prevent SCD complications, has become more widespread over the past 20 y. The NHLBI recommends that HU be offered to all patients with HbSS beginning at 9 mo of age, and the recently published Abnormal TCD with Transfusions Changing to HU (TWiTCH) trial has shown HU as an acceptable alternative to transfusion therapy for patients at high risk of stroke. While hematopoietic stem cell transplant (HSCT) is a curative option for SCD, less than 25% of patients have a suitable donor. Alternative stem cell sources from unrelated donors and haplo-identical donors are currently under investigation as are gene therapy trials. This review will focus on early efforts to elucidate SCD pathophysiology as well as supportive and preventive care improvements. Findings from recent multi-center studies (Silent Infarct Transfusion (SIT) Trial and TWiTCH) will be summarized. Finally, HSCT trials and gene therapy will be reviewed.

A patient‐centered medical home model for comprehensive sickle cell care in infants and young children

“…The 2014 NHLBI expert panel guidelines for SCD highlight the importance of preventative care including penicillin prophylaxis and pneumovax administration for all children with SCD, and TCD screening for patients with HbSS and HbS‐beta zero thalassemia 12 . Preventative care reduces morbidity and mortality in patients with SCD 20,21 . Children in our sickle cell NCC achieved high rates of preventive care measures with 100% initiation of penicillin prophylaxis.…”

Patient characteristics affect the response to ketamine and opioids during the treatment of vaso-occlusive episode-related pain in sickle cell disease

“…A mong patients with sickle cell disease (SCD), pain resulting from vaso-occlusive episodes (VOEs) continues to be the principal reason for hospital admission (1)(2)(3). Unfortunately, the management of VOEs has changed little since the initial studies of SCD-associated pain (1,4,5) and still consists of opioids, non-steroidal anti-inflammatory drugs, and intravenous hydration. Although opioids continue to be the mainstay of analgesic therapy during VOEs, some patients have continued and increasing pain despite receiving escalating doses of opioids (6).…”

“…In turn, the presence of a pre-existing neuropathic process adds complexity to the treatment of acute VOE-associated pain as opioids are often ineffective in neuropathic pain. Although there are a number of ongoing clinical trials of therapies targeting potential mechanisms of VOEs in SCD (5), therapies that effectively treat VOE-associated SCD pain in patients chronically exposed to opioids are currently unavailable.…”

Enfermedad de células falciformes: Un diagnóstico para tener presente

“…Se presenta especialmente en niños entre 2 a 5 años, sus síntomas son dificultad respiratoria, dolor torácico asociado a hipoxia y fiebre. Sólo en 50% de los casos se logra aislar algún agente infeccioso 8 .…”