Rare Diseases Symptoms Automatic Extraction

Sickle cell disease in children: chronic complications and search of predictive factors for adverse outcomes.

[alpha-thalassemia]

Sickle cell disease (SCD) has extremely variable phenotypes, and several factors have been associated with the severity of the disease.To analyze the chronic complications of SCD and look for predictive risk factors for increased severity and number of complications.Retrospective study including all children followed for SCD in the Paediatric Haematology Unit of a tertiary hospital in Portugal, who completed 17 yr old between the years 2004 and 2013.We identified 44 patients, 55% female and 98% black. Chronic complications occurred in 80% of cases. Slight dilatation of the left ventricle was the most frequent complication (47.7%), followed by respiratory function disturbs (43.2%), microlithiasis or cholelithiasis (40.9%), increased flow velocity of cerebral arteries (31.8%), enuresis, delayed puberty and bone abnormalities (6.8% each), sickle cell retinopathy and leg ulcer (4.6% each) and recurrent priapism (2.3%). We identified a statistically significant association between leukocytes >15 000/μL and a higher number of hospitalizations (P < 0.001) and chronic complications of the disease (P = 0.035). The occurrence of dactylitis in first year of life was also significantly associated with a higher number of hospitalizations (P = 0.004) and chronic complications (P = 0.018). The presence of α-thalassemia was associated with a lower number of chronic complications (P = 0.036).Leucocytosis and dactylitis in the first year of life can be predictors of SCD severity, while the presence of α-thalassemia can be protective. The determination of early predictors of chronic complications of SCD may improve the comprehensive care of these patients.

Diseases presenting "extremely variable phenotypes" symptom

  • alpha-thalassemia
  • cowden syndrome
  • proteus syndrome

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