Cistatina C: marcador de laboratorio precoz de enfermedad renal en pacientes con depranocitosis / Cystatin C: early laboratory marker of renal disease In sickle cell disease

La enfermedad renal en el paciente con drepanocitosis es una consecuencia de su complejo proceso fisiopatológico, por lo que es importante disponer de un grupo de parámetros de laboratorio que, junto a la evaluación clínica, permita determinar de forma precoz la presencia de esta complicación. La cistatina C ha demostrado ser uno de los parámetros que con mayor exactitud aporta evidencia temprana de daño renal en este grupo de pacientes y al mismo tiempo constituye un posible indicador de pronóstico de gran importancia(AU)

Renal disease in patients with sickle cell disease is a consequence of its complex pathophysiological process, so it is important to have a set of laboratory parameters that, together with the clinical evaluation, allow the early detection of this complication. Cystatin C has been shown to be one of the parameters that provides, with greater accuracy, early evidence of kidney damage in this group of patients and at the same time constitutes a possible indicator of prognosis of great importance(AU)

Enfermedad de células falciformes en el embarazo / Sickle Cell Disease in Pregnancy

La anemia de células falciformes o drepanocitosis, es una de las hemoglobinopatías estructurales más comunes en el mundo. La clínica se resume en oclusión vascular e isquemia tisular, anemia hemolítica y la susceptibilidad a infecciones. La procreación en mujeres con hemoglobinopatías deviene un grave problema de salud, que exige una atención diferenciada y multidisciplinaria. Para esta afección no existe tratamiento especifico definitivo, el arsenal medico existente solo puede manejar los efectos y no la causa. La siguiente revisión tiene como objetivo ofrecer a los profesionales algunos aspectos relacionados con la fisiopatología, una discusión del problema clínico, diagnóstico y opciones terapéuticas de la enfermedad, lo que permite contribuir en la reducción de la morbilidad y mortalidad materna y perinatal. Se concluye que un alto índice de perspicacia y buen diagnóstico es menester para obtener resultados óptimos en las embarazadas afectadas por enfermedad de células falciformes(AU)

Sickle cell anemia or sickle cell disease is one of the most common structural hemoglobinopathies in the world. The clinic is summarized in vascular occlusion and tissue ischemia, hemolytic anemia and vulnerability to infections. Procreation in women with hemoglobinopathies becomes a serious health problem that requires a differentiated and multidisciplinary care. There is no definitive specific treatment for this condition, the existing medical resources can only address the effects and not the cause. The following review aims to offer professionals some aspects related to the pathophysiology, a discussion of the clinical problem, diagnosis and treatment options, which can contribute in reducing morbidity and maternal and perinatal mortality. It is concluded that high level of insight and good diagnosis are necessary for optimum results in pregnant women affected by sickle cell disease(AU)

Compound heterozygosity for Hb S and Hb S-Oman: Case report

The haematological and clinical findings of a three year old Omani girl, phenotypically compound heterozygote for Hb S and Hb S Oman, are presented, further substantiated by family studies. The necessity of reviewing cases with sickle cell haemoglobin in Oman is stressed

Renal dysfunction in patients with sickle cell anemia or sickle cell trait

Patients with sickle cell anemia (Hb SS) or sickle cell trait (Hb AS) may present several types of renal dysfunction; however, comparison of the prevalence of these abnormalities between these two groups and correlation with the duration of disease in a large number of patients have not been thoroughly investigated. In a cross-sectional study using immunoenzymometric assays to measure tubular proteinuria, microalbuminuria, measurement of creatinine clearance, urinary osmolality and analysis of urine sediment, we evaluated glomerular and tubular renal function in 106 adults and children with Hb SS (N = 66) or Hb AS (N = 40) with no renal failure (glomerular filtration rate (GFR)>85 ml/min). The percentage of individuals with microalbuminuria was higher among Hb SS than among Hb AS patients (30 vs 8 per cent, P<0.0001). The prevalence of microhematuria was similar in both groups (26 vs 30 per cent, respectively). Increased urinary levels of retinol-binding protein or ß2-microglobulin were detected in only 3 Hb SS and 2 Hb AS patients. Urinary osmolality was reduced in patients with Hb SS or with Hb AS; however, it was particularly evident in Hb SS patients older than 15 years (median = 393 mOsm/kg, range = 366-469) compared with Hb AS patients (median = 541 mOsm/kg, range = 406-722). Thus, in addition to the frequently reported early reduction of urinary osmolality and increased GFR, nondysmorphic hematuria was found in 26 and 30 per cent of patients with Hb SS or Hb AS, respectively. Microalbuminuria is an important marker of glomerular injury in patients with Hb SS and may also be demonstrated in some Hb AS individuals. Significant proximal tubular dysfunction is not a common feature in Hb SS and Hb AS population at this stage of the disease (i.e., GFR>85 ml/min)

Anterior hypopituitarism associated with sickle cell trait in a 13-year-old boy

We are reporting a 13-year-old boy with hypopituitarism associated with sickle cell trait. The patient was referred with growth arrest since 10-year of age, and had evidence of growth hormone deficiency, hypoadrenalism and secondary hypothyroidism. A magnetic resonance imaging study revealed an empty sella with no evidence of tumor. Review of the literature showed three patients with sickle cell trait and hypopituitarism, all being in the third decade or later of life. To our knowledge, this patient is the first case of sickle cell trait with anterior hypopituitarism in childhood. This case supports a causal relationship between sickle cell trait and hypopituitarism

Red cell profile in normal and sickle cell diseased children

The red cell distribution width index [RDW] and other cell indices [HCT, MCV, MCH] were determined in 171 normal infants and children, 37 patients with sickle cell disease [SCD] and 44 patients with sickle cell trait [SCT]. The red blood cell indices including RDW in normal children showed a significant difference between different age groups [P <0.01], while in different sex groups, they did not differ significantly. SCD group showed a significant increase in RDW and a significant decrease in the hematocrit [HCT] value when compared either with the control or the SCT groups [P <0.01]. Patients with SCD showed a significant increase in their RDW and a significant decrease in their hematocrit values during hemolytic crises as compared with those during vaso-occlusive crises [P <0.01]. A positive linear correlation between RDW and the reticulocyte count in SCD and SCT patients [r = 0.8842, P <0.01] was also found. In this context, it was concluded that RWD values do reflect the reticulocytes magnitude which would provide clinical and pathological information about SCD and its crises

Anemia de células falciformes en adultos. Estudio de 51 pacientes en el Hospital Universitario San Vicente de Paúl

La anemia de las células falciformes (ACF) es la anemia hereditaria más común en el mundo. En nuestro medio la frecuencia de rasgos falciformes varia entre 1.2 por ciento en Medellín y 14.7 por ciento en poblacciones negras del Chocó. El presente estudio informa el análisis clínico y de laboratorio de 51 pacientes adultos con ACF, tratados en la sección de Hematología desde 1960 a 1989. La ictericia (47 por ciento), el síndrome anémico (14 por ciento) y las crisis dolorosas (14 por ciento) fueron las causas más frecuentes de consulta, como se informa en la literatura. Desde el punto de vista de el laboratorio, la hemoglobina fue de 8.3ñ1.3 gr/por ciento, los reticulocitos de 15ñ8, la bilirrubina de 4.2ñ2.4 mg/por ciento y la hemoglobina fetal de 8.5ñ4.9/por ciento. Datos parecidos a los encontrados en otros países del área del Caribe en donde la ACF tiene una frecuencia alta. Se concluye que la ACF en nuestro medio tiene un fenotipo benigno, resultado de el ancestro africano modificado por el, mestizaje y los demás factores del ecosistema geográfico.

Sickle cell anemia in western Saudi Arabia

25 Saudi and Yemeni Arabs with sickle cell anemia from western Saudi Arabia aged between 5 and 30 years were studied. The mean study state haemoglobin concentration of 8 g/dl was lower than that of 10.7 g/dl reported previously for sickle cell anemia in Western Saudi Arabia. 14 patient had [HbF] of 10% or below [SSLF] while 11 patients had [HbF] above 10% [SSHF] No significant differences were found in the hemoglobin concentration and indices of the two groups. SSLF patients were significantly more prone to infection [P < 0.01], there was an overall high incidence of hepatomegaly [72%] and splenomegaly [60%]. Hepatomegaly was more common in the SSLF group [78.6%]. Saudi Arabian sickle cell anemia, even in patients with raised haemoglobin F levels, may be as clinically severe as in African patients