ISSN - 0973-0958

Pediatric Oncall Journal View Article

Rhabdomyolysis - when should one suspect of an inherited metabolic disorder?
Joana Pires Borges, Maria João Gaia, Marta Vila Real, Helena Santos.
Pediatrics Department, Vila Nova de Gaia/ Espinho Hospital Centre, Vila Nova de Gaia, Portugal.
Abstract
The present study aims to understand if there is a significant difference between the value of CK between children with and without an IMD; to compare the probability of recurrence between the two groups; to compare the main triggers of CK elevation and to establish a CK value as a cut-off for suspecting of an IMD.
We performed a cross-sectional study. We divide our sample in two groups: group 1 – the ones with an IMD; group 2 – the ones without an IMD. The following variables were studied: age, sex, trigger for CK increase, place of CK measurement, CK value and occurrence of recurrence.
A total of 138 patients were included, 7 with an IMD and 131 without. We found 198 cases of CK > 1000 IU/L, 55 in the first group and 143 in the second. The 7 patients in the first group had an IMD involving energy metabolism. In the group with an IMD, the CK presented a median of 11769 IU/L and in the second group of 2167 IU/L with a statistically significant difference (p < 0.001). We conclude that there is an association between having an IMD and the recurrence of CK > 1000 IU/L (p<0.001). The optimal value of CK of 2709 IU/L was found to predict when one should suspect of an IMD.
Why this article important?
From the authors point of view, this manuscript highlights the importance of be aware of the creatine kinase profile in patients with metabolic myopathies due to the presence of an inherited metabolic disorder (IMD). It differentiates the clinical presentation, CK median value and number of occurrences of CK > 1000 IU/L between IMD patients and healthy children. It is crucial for the everyday paediatrician to be aware that even though an increased CK value can not be interpreted by itself, its absolute value should always be considered along with the recurrence of CK high values and other accompanying clinical symptoms.
Summary of article
The main goals of the present study were to understand if there is a significant difference between the value of CK between children with and without an IMD; to compare the probability of recurrence between the two groups and to establish a CK value as a cut-off for suspecting of an IMD. We conclude that IMD patients have higher median CK values than the remaining population and we establish an optimal value of CK of 2709 IU/L from which a patient should be further evaluated in a medical appointment to follow clinical and laboratory evolution, considering that patients with IMD have fluctuate symptoms and CK values.

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