What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.

Autor: Rosenberg AGW; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Pater MRA; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Pellikaan K; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Davidse K; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands., Kattentidt-Mouravieva AA; Stichting Zuidwester, 3241 LB Middelharnis, The Netherlands., Kersseboom R; Stichting Zuidwester, 3241 LB Middelharnis, The Netherlands., Bos-Roubos AG; Center of Excellence for Neuropsychiatry, Vincent van Gogh, 5803 DN Venray, The Netherlands., van Eeghen A; 's Heeren Loo, Care Group, 3818 LA Amersfoort, The Netherlands.; Department of Pediatrics, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.; Academic Center for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Veen JMC; 's Heeren Loo, Care Providing Agency, 6733 SC Wekerom, The Netherlands., van der Meulen JJ; 's Heeren Loo, Care Providing Agency, 6733 SC Wekerom, The Netherlands., van Aalst-van Wieringen N; Department of Physical Therapy, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Hoekstra FME; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Department of Internal Medicine, Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., van der Lely AJ; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., de Graaff LCG; Department of Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Prader-Willi Syndrome, 3015 GD Rotterdam, The Netherlands.; Academic Center for Growth Disorders, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.; ENCORE-Dutch Center of Reference for Neurodevelopmental Disorders, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Turner Syndrome, 3015 GD Rotterdam, The Netherlands.; Dutch Center of Reference for Disorders of Sex Development, 3015 GD Rotterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Journal of clinical medicine [J Clin Med] 2021 Nov 22; Vol. 10 (22). Date of Electronic Publication: 2021 Nov 22.
DOI: 10.3390/jcm10225457
Abstrakt: Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of adequate MD care for adults. We have launched an MD outpatient clinic providing syndrome-specific care for adults with CRGS, which, to our knowledge, is the first one worldwide in the field of internal medicine. Between 2015 and 2020, we have treated 720 adults with over 60 syndromes. Eighty-nine percent of the syndromes were associated with endocrine problems. We describe case series of missed diagnoses and patients who had undergone extensive diagnostic testing for symptoms that could actually be explained by their syndrome. Based on our experiences and review of the literature, we provide an algorithm for the clinical approach of health problems in CRGS adults. We conclude that missed diagnoses and needless invasive tests seem common in CRGS adults. Due to the increased life expectancy, an increasing number of patients with CRGS will transfer to adult endocrinology. Internist-endocrinologists (in training) should be aware of their special needs and medical pitfalls of CRGS will help prevent the burden of unnecessary diagnostics and under- and overtreatment.
Databáze: MEDLINE
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