In 40 healthy adult volunteers of both sexes blood samples were taken simultaneously from an antecubital vein in EDTA-Vacutainers and from a fingertip in EDTA-Microtainers. Haematological measurements were subsequently performed in an Ortho-ELT 800 WS analyzer. Significant differences were obtained between the two sets of samples. In accordance with current literature, the 'capillary' thrombocyte count was either identical to, or more frequently substantially lower than the corresponding venous count. On the contrary, the 'capillary' erythrocyte count and the haematocrit and haemoglobin values significantly exceeded those of venous blood, while the red cell indices MCV, MCH and MCHC were identical. The total leucocyte count was substantially elevated in 'capillary' blood compared with the corresponding venous samples. Moreover, the 'capillary' differential leucocyte counts showed elevations which directly reflected the various particles' size. Possible explanations of these findings are discussed.
BackgroundPhenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability. The present study aimed to review published cases of such PKU patients.MethodsTo this purpose, we conducted a literature search in PubMed and EMBASE up to 8th of September 2017 to identify cases with 1) PKU diagnosis and start of treatment after 7 years of age; 2) untreated plasma phenylalanine concentrations ≥1200 μmol/l; and 3) IQ ≥80. Literature search, checking reference lists, selection of articles, and extraction of data were performed by two independent researchers.ResultsIn total, we identified 59 published cases of patients with late-diagnosed PKU and unexpected favorable outcome who met the inclusion criteria. Although all investigated patients had intellectual functioning within the normal range, at least 19 showed other neurological, psychological, and/or behavioral symptoms.ConclusionsBased on the present findings, the classical symptomatology of untreated or late-treated PKU may need to be rewritten, not only in the sense that intellectual dysfunction is not obligatory, but also in the sense that intellectual functioning does not (re)present the full picture of brain damage due to high plasma phenylalanine concentrations. Further identification of such patients and additional analyses are necessary to better understand these differences between PKU patients.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0890-7) contains supplementary material, which is available to authorized users.
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