We agree with Prof. Abholz’s demand for adequate, competent care also for adult persons with rare diseases discovered in newborn screening. In this context, the necessity of a structured transition for an organized transfer from pediatric and adolescent medicine to adult medicine, and the recognition of possible obstacles, should be pointed out (1– 3).
We are happy to support the invitation made by Prof. Holl and Prof. Wölfle to all endocrinology institutions to participate in the DGKED registry. We had previously discussed presenting the registry; however, a complete recording of the cases of the disease seems to be impossible under the current legal conditions, especially for hypothyroidism. In our experience, more than 60% of children with congenital hypothyroidism are treated by a local pediatrician. This situation should have been discussed in the article, which unfortunately was not possible due to lack of space.
As already mentioned in the article (4), we consider it to be absolutely necessary to comprehensive record all persons with diseases discovered during screening in registry structures, for quality assurance as well as to evaluate the success of newborn screening. As the incomplete coverage rate of existing registries shows, both data protection issues for the secure registration of all persons and the effort involved in data entry must be more clearly regulated in order to dissolve the existing dependency on the commitment of the institutions involved.
Footnotes
Conflict of interest statement
Dr. Nennstiel has received reimbursement of travel expenses and lecture fees from Biogen.
References
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