Fluchtwege von schwerkranken Kindern und Jugendlichen den ehemaligen Ostblockländern nach Deutschland zur Behandlung des Nierenversagens

Hintergrund: Erhöhte Patientenmobilität und eingeschränkte Behandlungsmöglichkeiten von Kindern mit terminaler Niereninsuffizienz veranlassten Familien aus den ehemaligen Ostblockländern mit ihren Kindern zur Behandlung nach Deutschland zu fliehen. Methode: In einer Fallstudie wurden Krankenakten retrospektiv analysiert. In strukturierten Interviews wurden Eltern und Patienten nach dem Fluchtweg, der Behandlung und Integration befragt. Ergebnisse: Von 2003 bis 2013 kamen acht Kinder und Jugendliche zur Behandlung eines terminalen Nierenversagens nach Erlangen. Die meisten Patienten kamen mit Hilfe eines Schleusers mit einem Touristenvisum. Auffallend oft gaben sie an, in der Aufregung ihre Papiere verloren zu haben. Eine Familie erhielt vom Schleuser neue Pässe mit gefälschten Namen und Geburtsdaten. Die Familien waren gezwungen, für die Flucht hohe Kosten auf sich zu nehmen, um durch die Behandlung in Deutschland das Leben ihres Kindes zu retten. Auch wenn sich die Dialysetherapie wegen eines anderen Krankheitsverständnisses oft schwierig gestaltete, war der Gesamtverlauf zufriedenstellend. Vier Patienten konnten mittlerweile erfolgreich transplantiert werden. Schlussfolgerung: Diese Fallstudie zeigt neue Facetten der Patientenmobilität, die durch die bessere medizinische Versorgung in Deutschland motiviert ist und das Ziel hat, das Überleben des Kindes zu sichern. Dabei entstehen neue, versorgungsethische Probleme. Eine Dialysebehandlung bei Kindern mit terminaler Niereninsuffizienz impliziert die Nierentransplantation als therapeutisches Ziel.Background: Increased patient mobility and restricted treatment of children with end-stage renal disease forced families from the former Eastern Bloc countries to flee with their children to Germany for adequate medical treatment. Methods: In a case study, the patients’ charts were analysed retrospectively. In structured interviews, parents and patients were asked about their flight routes to Germany, their medical treatment and their integration. Results: From 2003 to 2013, eight children and adolescents with terminal renal failure were treated with dialysis or renal transplantation in Erlangen. Most patients came with the help of human traffickers and a tourist visa. They often reported that they had lost their papers in the excitement. One family received new passports from the trafficker with fake names and birth dates. The families had to pay high amounts of money in order to save their child's life. Although dialysis therapy was often difficult because of lower adherence, the overall course was satisfactory. Four patients have been transplanted successfully so far. Conclusion: This case study reveals new facets of patient mobility, since leaving home was the only way for the family to ensure their child´s survival. New ethical problems arise, as a chronic dialysis treatment in children seems ethically only justifiable if a kidney transplant is the therapeutic goal

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

Thalwitzer KM, Driedger JH, Xian J, et al. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1. Neurology. 2023.BACKGROUND AND OBJECTIVES: Pathogenic variants in STXBP1 are among the major genetic causes of neurodevelopmental disorders. Despite the increasing number of individuals diagnosed without a history of epilepsy, little is known about the natural history and developmental trajectories in this subgroup and endpoints for future therapeutic studies are limited to seizure control.; METHODS: We performed a cross-sectional retrospective study using standardized questionnaires for clinicians and caregivers of individuals with STXBP1-related disorders capturing medical histories, genetic findings, and developmental outcomes. Motor and language function were assessed using Gross Motor Function Classification System scores (GMFCS) and a speech impairment score and were compared within and across clinically defined subgroups.; RESULTS: We collected data of 71 individuals with STXBP1-related disorders, including 44 previously unreported individuals. Median age at inclusion was 5.3 years (IQR = 3.5-9.3) with the oldest individual aged 43.8 years. Epilepsy was absent in 18/71 (25%) of individuals. The range of developmental outcomes was broad, including two individuals presenting with close to age-appropriate motor development. 29/61 (48%) individuals were able to walk unassisted and 24/69 (35%) were able to speak single words. Individuals without epilepsy presented with a similar onset and spectrum of phenotypic features but had lower GMFCS scores (median 3 vs. 4, p < 0.01) than individuals with epilepsy. Individuals with epileptic spasms were less likely to walk unassisted than individuals with other seizure types (6% vs. 58%, p < 0.01). Individuals with early epilepsy onset had higher speech impairment scores (p = 0.02) than individuals with later epilepsy onset.; DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal or early-onset, presented with less favorable motor and language functional outcomes compared to individuals without epilepsy. These findings identify children at risk for severe disease and can serve as comparator for future interventional studies in STXBP1-related disorders. © 2023 American Academy of Neurology