Bilateral tractional retinal detachment in hemoglobin SC disease patient / Descolamento tracional de retina bilateral em hemoglobinopatia S-C

ABSTRACT A 36-year-old black male presented with a progressive loss of visual acuity in both eyes for 7 years. He had a history of tractional retinal detachment in the right eye and vitreous hemorrhage followed by retinal detachment in the left eye. He denied any systemic illness, trauma, or drug abuse. After clinical investigation, he was diagnosed with SC hemoglobinopathy and proliferative sickle cell retinopathy stage V in both eyes.

RESUMO Paciente do sexo masculino, 36 anos, negro, apresentou baixa acuidade visual progressiva em ambos os olhos por 7 anos. Possuía antecedentes de descolamento tracional de retina no olho direito e hemorragia vítrea, seguida de descolamento de retina no olho esquerdo. Negava doenças sistêmicas, trauma ou abuso de drogas. Após investigação clínica, foi diagnosticado com hemoglobinopatia S-C e retinopatia falciforme proliferativa estágio V em ambos os olhos.

Metabolic signatures of cardiorenal dysfunction in plasma from sickle cell patients as a function of therapeutic transfusion and hydroxyurea treatment.

Metabolomics studies in sickle cell disease (SCD) have been so far limited to tens of samples, owing to technical and experimental limitations. To overcome these limitations, we performed plasma metabolomics analyses on 596 samples from patients with SCD enrolled in the WALK-PHaSST study (clinicaltrials gov. Identifier: NCT00492531). Clinical covariates informed the biological interpretation of metabolomics data, including genotypes (hemoglobin [Hb] SS, hemoglobin SC), history of recent transfusion (HbA%), response to hydroxyurea treatment (fetal Hb%). We investigated metabolic correlates to the degree of intravascular hemolysis, cardiorenal function, as determined by tricuspid regurgitation velocity (TRV), estimated glomerular filtration rate (eGFR), and overall hazard ratio (unadjusted or adjusted by age). Recent transfusion events or hydroxyurea treatment were associated with elevation in plasma-free fatty acids and decreases in acyl-carnitines, urate, kynurenine, indoles, carboxylic acids, and glycine- or taurine-conjugated bile acids. High levels of these metabolites, along with low levels of plasma S1P and L-arginine were identified as top markers of hemolysis, cardiorenal function (TRV, eGFR), and overall hazard ratio. We thus uploaded all omics and clinical data on a novel online portal that we used to identify a potential mechanism of dysregulated red cell S1P synthesis and export as a contributor to the more severe clinical manifestations in patients with the SS genotype compared to SC. In conclusion, plasma metabolic signatures - including low S1P, arginine and elevated kynurenine, acyl-carnitines and bile acids - are associated with clinical manifestation and therapeutic efficacy in SCD patients, suggesting new avenues for metabolic interventions in this patient population.

Main Complications during Pregnancy and Recommendations for Adequate Antenatal Care in Sickle Cell Disease: A Literature Review.

Sickle cell disease (SCD) is the most common monogenic disease worldwide, with a variable prevalence in each continent. A single nucleotide substitution leads to an amino-acid change in the ß-globin chain, altering the normal structure ofhemoglobin, which is then called hemoglobin S inherited in homozygosity (HbSS) or double heterozygosity (HbSC, HbSß), and leads to chronic hemolysis, vaso-occlusion, inflammation, and endothelium activation. Pregnant women with SCD are at a higher risk of developing maternal and perinatal complications. We performed a narrative review of the literature considering SCD and pregnancy, the main clinical and obstetrical complications, the specific antenatal care, and the follow-up for maternal and fetal surveillance. Pregnant women with SCD are at a higher risk of developing clinical and obstetric complications such as pain episodes, pulmonary complications, infections, thromboembolic events, preeclampsia, and maternal death. Their newborns are also at an increased risk of developing neonatal complications: fetal growth restriction, preterm birth, stillbirth. Severe complications can occur in patients of any genotype. We concluded that SCD is a high-risk condition that increases maternal and perinatal morbidity and mortality. A multidisciplinary approach during pregnancy and the postpartum period is key to adequately diagnose and treat complications.

Doença falciforme (DF) é a condição genética mais comum no mundo, com uma prevalência variável nos continentes. A substituição de um nucleotídeo muda um aminoácido na cadeia da ß globina, e altera a estrutura normal da hemoglobina, que é então chamada de hemoglobina S, e pode ser herdada em homozigose (HbSS) ou heterozigose (HbSC, HbSß), e leva a hemólise crônica, vaso-oclusão, inflamação, e ativação endotelial. Realizou-se uma revisão narrativa da literatura considerando doença falciforme e gestação, as complicações clínicas e obstétricas, o cuidado antenatal específico, e o seguimento para monitoramento materno e fetal. Gestantes com DF têm maior risco de desenvolver complicações clínicas e obstétricas, como crises dolorosas, complicações pulmonares, infecções, eventos tromboembólicos, pré-eclâmpsia, e morte materna. E seus recém-nascidos correm maior risco de desenvovler complicações neonatais: restrição de crescimento fetal, prematuridade e óbito fetal/neonatal. Complicações graves podem ocorrer em qualquer genótipo da doença. Concluiu-se que DF é uma condição de alto risco que aumenta a morbimortalidade materna e perinatal. Um seguimento com abordagem multidisciplinar na gestação e puerpério é fundamental para o diagnóstico e o tratamento das complicações.

Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease.

BACKGROUND: Sickle cell disease (SCD) is a group of inherited disorders that result in haemoglobin abnormalities and other complications. Injury to the spleen, among other factors, contribute to persons with SCD being particularly susceptible to infection. Infants and very young children are especially vulnerable. The 'Co-operative Study of Sickle Cell Disease' observed an incidence rate for pneumococcal septicaemia of 10 per 100 person-years in children under the age of three years. Vaccines, including customary pneumococcal vaccines, may be of limited use in this age group. Therefore, prophylactic penicillin regimens may be advisable for this population. This is an update of a Cochrane Review which was first published in 2002, and previously updated, most recently in 2017.  OBJECTIVES: To compare the effects of antibiotic prophylaxis against pneumococcus in children with SCD receiving antibiotic prophylaxis compared to those without in relation to: 1. incidence of Streptococcus pneumoniae infection; 2. mortality (as reported in the included studies); 3. drug-related adverse events (as reported in the included studies) to the individual and the community; 4. the impact of discontinuing at various ages on incidence of infection and mortality. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which is comprised of references identified from comprehensive electronic database searches and also two clinical trials registries: ClinicalTrials.gov and the WHO International Registry Platform (not in 2020 given access issues relating to Covid-19 pandemic). Additionally, we carried out hand searching of relevant journals and abstract books of conference proceedings. Date of the most recent search: 25 January 2021. SELECTION CRITERIA: All randomised or quasi-randomised controlled trials comparing prophylactic antibiotics to prevent pneumococcal infection in children with SCD with placebo, no treatment or a comparator drug. DATA COLLECTION AND ANALYSIS: The standard methodological procedures expected by Cochrane were used. Both authors independently extracted data and assessed trial quality. The authors used the GRADE criteria to assess the certainty of the evidence. MAIN RESULTS: Six trials were identified by the searches, of which three trials were eligible for inclusion. A total of 880 children, who were between three months to five years of age at randomization were included. The included studies were conducted in centres in the USA and in Kingston, Jamaica. In trials that investigated initiation of penicillin on risk of pneumococcal infection, the odds ratio was 0.37 (95% confidence interval 0.16 to 0.86) (two trials, 457 children) (low-certainty evidence), while for withdrawal the odds ratio was 0.49 (95% confidence interval 0.09 to 2.71) (one trial, 400 children) (low-certainty evidence). Adverse drug effects were rare and minor. Rates of pneumococcal infection were found to be relatively low in children over the age of five years. Overall, the certainty of the evidence for all outcomes was judged to be low. The results from the risk of bias assessment undertaken identified two domains in which the risk of bias was considered to be high, these were incomplete outcome data (attrition bias) (two trials) and allocation concealment (selection bias) (one trial). Domains considered to have a low risk of bias for all three trials were selective reporting (reporting bias) and blinding (performance and detection bias). AUTHORS' CONCLUSIONS: The evidence examined was determined to be of low certainty and suggests that prophylactic penicillin significantly reduces risk of pneumococcal infection in children with homozygous SCD, and is associated with minimal adverse reactions. Further research may help to determine the ideal age to safely withdraw penicillin.

Bone marrow necrosis and fat embolism syndrome: a dreadful complication of hemoglobin sickle cell disease

Sickle cell disease encompasses a wide range of genotypic presentation with particular clinical features. The entity affects millions of people, particularly those whose ancestors came from sub-Saharan Africa and other countries in the Western Hemisphere, Saudi Arabia, and India. Currently, the high frequency of S and C genes reflects natural selection through the protection of heterozygotes against severe malaria, the high frequency of consanguineous marriages, improvement of some public health policies and the nutritional standards in the poorer countries where newborns are now living long enough to present for diagnosis and management. Although there is a high burden of the disease, in many countries, the new-born sickle cell screening test is being performed and is rendering an early diagnosis; however, it is still difficult for sickle cell patients to find proper treatment and adequate follow-up. Moreover, in many countries, patients are neither aware of their diagnosis nor the care they should receive to prevent complications; also, they do not receive adequate genetic counseling. Hemoglobin SC (HbSC) disease is the most frequent double sickle cell heterozygosis found in Brazil. The clinical course tends to be more benign with fewer hospitalizations compared with double homozygotic SS patients. However, HbSC patients may present severe complications with a fatal outcome. We report the case of a 36-year-old man who presented to the emergency care facility with symptoms consistent with the diagnosis of sickling crisis. The outcome was unfavorable and death occurred just hours after admission. The autopsy revealed a generalized vaso-occlusive crisis by sickled red cells, bone marrow necrosis, and fat embolism syndrome.

Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease.

BACKGROUND: Persons with sickle cell disease (SCD) are particularly susceptible to infection. Infants and very young children are especially vulnerable. The 'Co-operative Study of Sickle Cell Disease' observed an incidence rate for pneumococcal septicaemia of 10 per 100 person years in children under the age of three years. Vaccines, including customary pneumococcal vaccines, may be of limited use in this age group. Therefore, prophylactic penicillin regimens may be advisable for this population. This is an update of a Cochrane Review first published in 2002, and previously updated, most recently in 2014. OBJECTIVES: To assess the effects of antibiotic prophylaxis against pneumococcus in children with SCD in relation to:1. incidence of infection;2. mortality;3. drug-related adverse events (as reported in the included studies) to the individual and the community;4. the impact of discontinuing at various ages on incidence of infection and mortality. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, which is comprised of references identified from comprehensive electronic database searches and also two clinical trials registries: ClinicalTrials.gov and the WHO International Registry Platform. Additionally, we carried out handsearching of relevant journals and abstract books of conference proceedings.Date of the most recent search: 19 December 2016. SELECTION CRITERIA: All randomised or quasi-randomised controlled trials comparing prophylactic antibiotics to prevent pneumococcal infection in children with SCD with placebo, no treatment or a comparator drug. DATA COLLECTION AND ANALYSIS: Both authors independently extracted data and assessed trial quality. The authors used the GRADE criteria to assess the quality of the evidence. MAIN RESULTS: Five trials were identified by the searches, of which three trials (880 children randomised) met the inclusion criteria. All of the included trials showed a reduced incidence of infection in children with SCD (SS or Sß0Thal) receiving prophylactic penicillin. In trials which investigated initiation of penicillin on risk of pneumococcal infection, the odds ratio was 0.37 (95% confidence interval 0.16 to 0.86) (two trials, 457 children) (low-quality evidence), while for withdrawal the odds ratio was 0.49 (95% confidence interval 0.09 to 2.71) (one trial, 400 children) (low-quality evidence). Adverse drug effects were rare and minor. Rates of pneumococcal infection were found to be relatively low in children over the age of five.Overall, the quality of the evidence for all outcomes was judged to be low. The results from the risk of bias assessment undertaken identified two domains in which the risk of bias was considered to be high, these were incomplete outcome data (attrition bias) (two trials) and allocation concealment (selection bias) (one trial). Domains considered to have a low risk of bias for all three trials were selective reporting (reporting bias) and blinding (performance and detection bias). AUTHORS' CONCLUSIONS: The evidence examined suggests that prophylactic penicillin significantly reduces risk of pneumococcal infection in children with homozygous SCD, and is associated with minimal adverse reactions. Further research may help to determine the ideal age to safely withdraw penicillin.

Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease.

Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology, endothelial activation, hemolysis, a procoagulant state, acute and chronic inflammation, and vaso-occlusion. Among the physiological changes that occur during pregnancy, oxygen is consumed by fetal growth, and pregnant women with SCD are more frequently exposed to low oxygen levels. This might lead to red blood cells sickling, and, consequently, to vaso-occlusion. The mechanisms by which SCD affects placental physiology are largely unknown, and chronic inflammation might be involved in this process. This study aimed to evaluate the gene expression profile of inflammatory response mediators in the placentas of pregnant women with sickle cell cell anemia (HbSS) and hemoglobinopathy SC (HbSC). Our results show differences in a number of these genes. For the HbSS group, when compared to the control group, the following genes showed differential expression: IL1RAP (2.76-fold), BCL6 (4.49-fold), CXCL10 (-2.12-fold), CXCR1 (-3.66-fold), and C3 (-2.0-fold). On the other hand, the HbSC group presented differential expressions of the following genes, when compared to the control group: IL1RAP (4.33-fold), CXCL1 (3.05-fold), BCL6 (4.13-fold), CXCL10 (-3.32-fold), C3 (-2.0-fold), and TLR3 (2.38-fold). Taken together, these data strongly suggest a differential expression of several inflammatory genes in both SCD (HbSS and HbSC), indicating that the placenta might become an environment with hypoxia, and increased inflammation, which could lead to improper placental development.

Acidente vascular cerebral na hemoglobinopatia SC(HBB glu6val e glu6lys): avaliação de marcadores de prognóstico / hemoglobinopathy (HBB glu6val and glu6lys): evaluation of prognostic markers

O acidente vascular cerebral (AVC) é uma complicação clínica grave da doença falciforme (DF). Poucos estudos avaliaram a velocidade do fluxo sanguíneo cerebral utilizando o Doppler transcraniano (DTC) e marcadores preditores do AVC na hemoglobinopatia SC (HbSC) e, desta forma, as velocidades consideradas de risco para os indivíduos com esta hemoglobinopatia são baseadas em velocidades descritas para a anemia falciforme (AF) e para a Sβ talassemia (HbS/β). Assim, o objetivo do presente estudo foi identificar marcadores preditores do AVC em indivíduos com HbSC, estabelecendo subfenótipos da doença pela associação de biomarcadores genéticos, hematológicos, bioquímicos e imunológicos com o valor da velocidade do fluxo sanguíneo cerebral. Para tanto, foi realizado um estudo transversal, onde foram investigados 68 indivíduos com HbSC. A velocidade média máxima do fluxo sanguíneo cerebral nas artérias cerebral média, carótida anterior e cerebral anterior foi determinada utilizando o DTC...

Stroke is a serious clinical complication of sickle cell disease (SCD). Only few studies have evaluated the rate of cerebral blood flow by transcranial Doppler (TCD) and stroke predictor markers on hemoglobinopathy SC (HbSC), thus, velocity considered as risk for stroke that is used to diagnose HbSC individuals are based on velocities described for the sickle cell anemia (SCA) and Sβ thalassemia. The objective of this study was to identify predictors markers of stroke in individuals with HbSC, establishing subphenotypes disease by the association of genetic biomarkers, hematological, biochemical and immunological with the value of the velocity of cerebral blood flow. For that, we conducted a cross-sectional study, which were investigated 68 HbSC individuals. The average maximum rate of cerebral blood flow in the middle cerebral artery, anterior cerebral artery and anterior carotid artery was determined using the DTC...

Cohort study of adult patients with haemoglobin SC disease: clinical characteristics and predictors of mortality.

Haemoglobin (Hb) SC disease is the second most common subtype of sickle cell disease and is potentially fatal. This study aimed to determine the clinical characteristics, outcome and predictors of mortality in HbSC disease patients, and to compare these findings with patients followed-up in different centres. Clinical, laboratory and outcome data were collected from a cohort of adult patients with HbSC disease followed between 1991 and 2103. Cox regression multivariate analysis was used to determine predictors of mortality. One hundred and fifty-five patients were followed-up over 20 years: 9% died and 70·8% had at least one complication. The most common complications were: painful crises (38·3%), retinopathy (33·8%), cholelithiasis (30·3%), osteonecrosis (24·8%) and sensorineural hearing disorders (9·7%). Frequency of chronic complications was similar in most studies. In multivariate analysis, hearing disorders remained an independent predictor of mortality (Odds Ratio 9·26, 95% confidence interval 1·1-74·8; P = 0·03). It was concluded that patients with HbSC disease receive a late diagnosis and there is remarkable similarity between the studies conducted in different centres around the world. Sensorineural hearing disorders were an independent predictor of mortality, suggesting that it may be useful to implement routine diagnostic screening.

Manifestações retinianas em pacientes portadores de anemia de células falciformes / Retinal sings in patients with sickle cell disease

A Organização Mundial de Saúde estima que mais de 5 por cento da população mundial seja portadora de algum tipo de hemoglobinopatia. Dentre essas encontramos a anemia de células falciformes, que tem seu principal efeito lesivo sobre a vasculatura periférica. Na retina, as lesões falciformes possuem fisiopatologia e classificação bem definidas. O objetivo é identificar as manifestações retinianas à anemia falciforme em pacientes encaminhados ao Hospital Bettina Ferro de Souza a partir do Hemocentro do Estado do Pará - HEMOPA. MÉTODOS: No Serviço de Oftalmologia do Hospital Universitário Bettina Ferro de Souza realizou-se em cinquenta pacientes portadores de anemia de células falciformes, sendo 37 genótipo SS e 13 genótipo SC, foram acompanhados pelo ambulatório de anemia falciforme do HEMOPA e selecionados aleatoriamente, sendo submetidos à entrevista para registro de sexo; idade; cor; genótipo; alterações oculares; medicamentos utilizados. exame oftalmológico, incluindo angiofluoresceínografia nos casos com alteração retiniana. RESULTADOS: Registro em protocolo de pesquisa e posteriormente submetidos à análise estatística utilizando o teste estatístico Qui-quadrado e p<0,05. Oitenta e oito por cento dos pacientes estudados não possuíam qualquer lesão retiniana falciforme, 3 por cento apresentaram oclusão vascular periférica, em 2 por cento evidenciou-se placa pigmentada, e 7 por cento apresentaram lesões não compatíveis com a doença falciforme; quanto ao sexo houve proporcionalidade de 50 por cento para ambos; faixa etária de maior predominância foi a de 11 e 15 anos com 38 por cento, 74 por cento enquandraram-se no genótipo SS e 26 por cento no SC. Em relação ao uso de medicamentos, notou-se maior prevalência de alterações oculares nos pacientes que faziam uso do ácido fólico isolado com 5 por cento, em contraste com aqueles em uso da associação hidróxiuréia e ácido fólico em que todos (27 por cento) possuíam exame fundoscópico normal. Todos os pacientes (29 por cento) com hemoglobina fetal acima de 10 por cento possuíam retina sem alterações. CONCLUSÃO: Poucos casos de lesões retinianas foram observados no grupo estudado, ainda assim esta pesquisa reafirma a importância da realização do exame oftalmológico de maneira precoce e periódica, visto que, a retinopatia falciforme é fato bem documentado e suas complicações podem resultar em amaurose.

The World Health Organization counts that more than 5 percent of the world's population carry some type of hemoglobinopathy. Among them we find the sickle cell aneamia that presents its main harmful effect on the peripheral vasculature. In the retina, the falciform lesions have a well defined physiopathology and classification. To identify the retinal manifestations caused by the falciform aneamia in patients directed to the Bettina Ferro de Souza Hospital from the Hemocenter of the State of Pará - HEMOPA, in the months of September through December of 2006. METHODS: Ophthalmologic examination was performed in the Department of Ophthalmology of the Bettina Ferro de Souza Hospital. and fifty patients with sickle cell aneamia (SS or SC) followed by the department of falciform aneamia of the Hematologia e Hemoterapia do Pará - HEMOPA have been randomly selected and submitted to interview in order to register their: sex; age; color; genotype; ocular alterations; medicines taken. Ophthalmologic examination was performed in the Department of Ophthalmology of the Bettina Ferro de Souza Hospital. It consisted of: evaluation of the acuity of vision with and without correction, indirect biomicroscopy, indirect binocular ophthalmoscopy, and, in case the latter presented alterations, a complementary study with angiofluoresceinography would be carried through. RESULTS: The outcomes have been registered in research protocol and later submitted to the statistic analysis using the Qui-square test, adopting, as level of significance, p<0,05. Eighty-eight percent of the patients did not present any falciform retinal sign, 3 percent presented peripheral vascular occlusion; in 2 percent, pigmented plate was shown, and 7 percent presented injuries which were not compatible with the falciform disease; there was a proportionality of 50 percent for males and females; there was a higher predominance (38 percent) of people aged from 11 and 15; 74 percent had SS genotype and 26 percent SC genotype; in relation to the use of medicines there was a higher prevalence of ocular alterations in patients who had made use of the folic acid isolated, with 5 percent, in contrast with those who had used the hidroxyurea association and folic acid, when all (27 percent) presented normal fundoscopic examination; all the patients (29 percent) that showed fetal hemoglobin rate above 10 percent had retina without alterations. CONCLUSION: Few cases of retinal signs have been observed in the studied group, however this research does not diminish the importance of early and periodic ophthalmologic examination, since falciform retinopathy is largely registered and its complications can lead to amaurosis.

Massive pulmonary embolism in children.

We present 3 children with massive pulmonary embolism and review 17 recent pediatric reports. Malignancies were a frequent cause (40%), and sudden death was common (60%). Compared with adults, diagnosis was more likely to be made at autopsy (P < .0001), more children were treated with embolectomy/thrombectomy (P = .0006), and mortality was greater (P = .03).

Complicación de una preeclampsia grave en una paciente portadora de hemoglobinopatía SC / Complication related to a severe pre-eclampsia and its complications in a patient carrier of SC hemoglobinopathy

La hemoglobinopatía SC es una de las formas más severas de hemoglobinopatías S. Las pacientes con esta enfermedad tienen un riesgo incrementado de sufrir eclampsia, abortos, parto pretérmino, daño orgánico, infecciones y muerte súbita durante el embarazo. Identificar la conducta perioperatoria y evolución de una paciente con hemoglobinopatía SC asociada a preeclampsia grave. Se trata de una paciente con hemoglobinopatía SC asociada a preeclampsia grave, a la que se le realizó operación cesárea de urgencia con anestesia general orotraqueal. A pesar de la conducta seguida en el quirófano, desarrolló un cuadro sugestivo de hemolisis aguda con compromiso de varios órganos diana, agravamiento de la trombocitopenia y elevación concomitante de las transaminasas séricas. La conducta preoperatoria debe ser orientada por un equipo multidisciplinario capaz de garantizar un tratamiento enérgico. Es de vital importancia que la atención a la preeclampsia con asociación o no de enfermedades poco comunes; se considere un síndrome multisistémico de severidad y curso variable. Es imprescindible lograr una adecuada perfusión orgánica, para evitar complicaciones futuras(AU)

SC hemoglobinopathy is one of the more severe ways of the S hemoglobinopathy. Patients presenting this disease have a high risk of eclampsia, miscarriages, pre-term labor, organic damage, infections, and sudden death during pregnancy.To identify Perioperative behavior and the course of a patient presenting with severe pre-eclampsia-associated SC hemoglobinopathy. A female patient presenting with severe pre-eclampsia-associated SC hemoglobinopathy had undergone an emergence secarean section using orothacheal general anesthesia. Despite the behavior followed in the operating theater, she developed a situation suggesting a acute hemodialysis with target organs involvement, worsening of thrombocytopenia, and concomitant rise of serum transaminases. Preoperative behavior must to be directed by a multidisciplinary team able to secure a vigorous treatment. It is very important that pre-eclampsia care associated or not with rare diseases be considered a multisystem syndrome of variable severity and course. It is essential to achieve a proper organic perfusion to avoid future complications(AU)

Acute splenic sequestration in an adult with hemoglobin S-C disease.

Acute splenic sequestration crisis is a common, potentially life-threatening complication of sickle cell anemia in children that is uncommon in adults.We present the case of a 44-year-old gentleman with undiagnosed hemoglobin S-C disease who developed intense back pain, marked abdominal distension, systemic inflammatory response syndrome, and multisystem organ failure that first presented as acute splenic sequestration crisis. The hemoglobinopathy SC is a disease caused by heterozygous-globin chain mutations with over-lapping clinical features of sickle cell disease with changes in the frequency of these manifestations reflected by the combination of characteristics of hemoglobin C and hemoglobin S. In hemoglobin S-C disease, autosplenectomy is rare and splenomegaly usually persists until adulthood;vasoocclusive complications are seen less habitually and become evident at a later time compared with sickle cell disease. The diagnosis of hemoglobin S-C disease is essentially done by exclusion. Transfusion of red blood cells is the treatment of choice, but splenectomy is indicated if transfusion therapy fails. A review of the literature and keypoints for the emergency practitioner are included.

[Nasopharyngeal colonization by Streptococcus pneumoniae in children with sickle cell disease receiving prophylactic penicillin]. / Colonização nasofaríngea pelo Streptococcus pneumoniae em crianças com doença falciforme usando penicilina profilática.

OBJECTIVES: To determine the prevalence of nasopharyngeal pneumococcus colonization in children with sickle cell disease undergoing penicillin prophylaxis, to identify risk factors for colonization and to serotype and determine antibiotic resistance in pneumococci obtained from those children. METHODS: Between April 9, 2002 and February 28, 2003, 188 nasopharyngeal swabs were obtained from 98 children with sickle cell disease in follow-up at the Hospital São Paulo-Universidade Federal de São Paulo. Pneumococci were isolated and identified by standard methods. The minimal inhibitory concentration for penicillin was determined by the E-test method. Isolates were serotyped with the use of type-specific antisera for 46 different serotypes (Neufeld-Quellung reaction). RESULTS: The age of children ranged from 4 months to 17 years (median and standard deviation 6.8-/+4.7 years). Thirteen of the 98 children had nasopharyngeal pneumococcus colonization (13.3% prevalence). There was a significantly greater risk of colonization among children less than 2 years old (p = 0.02). Twenty-one percent of isolates had intermediate penicillin resistance. There were no isolates highly resistant to penicillin. All isolates were susceptible to erythromycin, ceftriaxone, or vancomycin. The most frequently identified serotypes were 18C and 23F. CONCLUSIONS: Penicillin prophylaxis reduced pneumococcal nasopharyngeal colonization and did not increase the prevalence of penicillin-resistant pneumococci in children with sickle cell disease. Penicillin can be used not only for prophylaxis, but also in the acute management of febrile states with these children.

Colonização nasofaríngea pelo Streptococcus pneumoniae em crianças com doença falciforme usando penicilina profilática / Nasopharyngeal colonization by Streptococcus pneumoniae in children with sickle cell disease receiving prophylactic penicillin

OBJETIVOS: Determinar a prevalência de colonização nasofaríngea pelo pneumococo em crianças com doença falciforme, em uso de profilaxia com penicilina; identificar fatores de risco para colonização; sorotipar as cepas isoladas e avaliar a resistência antimicrobiana. METODOLOGIA: Foram colhidos 188 suabes de nasofaringe de 98 crianças com doença falciforme em acompanhamento no Hospital São Paulo, da Universidade Federal de São Paulo, no período de 09 de abril de 2002 a 28 de fevereiro de 2003. O isolamento e a identificação dos pneumococos seguiram procedimentos padronizados. A concentração inibitória mínima para penicilina foi determinada pelo método do E-test. A sorotipagem foi realizada pela reação de Neufeld-Quellung com anti-soros para 46 sorotipos. RESULTADOS: A idade variou de 4 meses a 17 anos (média e desvio padrão de 6,8±4,7 anos). Das 98 crianças do estudo, 13 apresentaram colonização pelo pneumococo (prevalência de 13,3 por cento). O maior risco de colonização ocorreu em menores de 2 anos de idade (p = 0,02). A prevalência de cepas com resistência intermediária à penicilina foi de 21,4 por cento, não sendo evidenciada resistência plena. Também não houve cepas resistentes à eritromicina, ceftriaxona e vancomicina. Os sorotipos isolados mais freqüentes foram o 18C e o 23F. CONCLUSÕES: O uso profilático de penicilina diminuiu a colonização nasofaríngea pelo pneumococo e não determinou aumento da resistência a esse antimicrobiano nas crianças com doença falciforme. A penicilina ainda pode ser usada na profilaxia e no tratamento dos episódios febris dessas crianças.