Qualität der medizinischen Versorgung von Kindern mit primärer angeborener Hypothyreose

Zusammenfassung

Einleitung Die primäre angeborene Hypothyreose ist die häufigste angeborene endokrine Erkrankung. Ziel unserer Studie war es, zu untersuchen, wie hoch die Qualität der medizinischen Behandlung von Kindern mit primärer angeborener Hypothyreose in Deutschland ist und inwiefern die kürzlich veröffentlichten Empfehlungen der Europäischen Gesellschaft für Kinderendokrinologie (European Society for Paediatric Endocrinology [ESPE]) in der Diagnostik und Therapie der Kinder mit einer primären angeborenen Hypothyreose bereits in der Vergangenheit von den behandelnden Ärzten in der alltäglichen Praxis umgesetzt worden sind.

Methoden Hierzu wurden retrospektiv die Daten aller Patienten, die von 1998 bis 2008 ein positives Testergebnis für eine primäre angeborene Hypothyreose im Neugeborenscreening (NGS) im Screeningzentrum Leipzig aufwiesen, analysiert.

Ergebnisse Das NGS wurde mehrheitlich im empfohlenen Zeitraum durchgeführt. Eine ätiologische Zuordnung der angeborenen Hypothyreose gelang in 71 % der Fälle. Die medikamentöse Therapie mit L-Thyroxin (LT4) wurde durchschnittlich mit 8,5 Lebenstagen begonnen. Eine Normalisierung der Schilddrüsenhormone wurde durchschnittlich innerhalb von 11,4 Tagen nach Behandlungsbeginn erreicht. Eine formale audiologische und neurokognitive Testung im Verlauf wurde zwar lediglich in 25 % und 5 % durchgeführt und dokumentiert. Betroffene Kinder erhielten dennoch die notwendigen Fördermaßnahmen auf Grundlage der klinischen Einschätzung der behandelnden Ärzte.

Diskussion Unsere Studie zeigt, dass die Empfehlungen der kinderendokrinologischen Fachgesellschaft bereits mehrheitlich umgesetzt wurden. Die Diagnostik zur ätiologischen Zuordnung der primären angeborenen Hypothyreose, die Durchführung von audiologischen Untersuchungen sowie die Dokumentation und Nachverfolgung der Patienten bedürfen Verbesserung.

Abstract

Introduction Primary congenital hypothyroidism is the most common congenital endocrine disease. The aim of our study was to examine the quality of medical care for children with congenital hypothyroidism in Germany and whether physicians had already put the just recently recommendations by the European Society for Paediatric Endocrinology (ESPE) into practice in their daily routine in the past.

Methods Toward this end, we retrospectively analysed the data of all children that were positively tested for primary congenital hypothyroidism at the newborn screening in the screening centre Leipzig between 1998 and 2008.

Results The newborn screening was mostly conducted during the recommended period. In 71 % of the cases, congenital hypothyroidism could be etiologically assigned. Medical therapy with levothyroxine was started on average at the age of 8.5 days. Thyroid hormone levels normalized on average after 11.4 days of treatment. Audiometry and developmental tests were performed and documented for 25 % and 5 % of the children, respectively. However, affected children were clinically recognized by their attending paediatricians and got the necessary therapeutic interventions.

Conclusions Our study shows that the recommendations of the Society for Paediatric Endocrinology had already mostly been followed in practice. There is potential for improvement regarding the etiological assignment of primary congenital hypothyroidism as well as the execution of audiological tests as well as a thorough documentation and follow-up.

Schlüsselwörter

Angeborene Hypothyreose - konnatale Hypothyreose - kongenitale Hypothyreose - Neugeborenenscreening

Keywords

Congenital hypothyroidism - newborn screening Zusammenfassung

^* *gleichberechtigte Erstautoren

• Literatur

• 1 Léger J, Ecosse E, Roussey M. et al. French Congenital Hypothyroidism Study Group.. Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study. J Clin Endocrinol Metab 2011; 96: 1771-1782.
• 2 Léger J, Olivieri A, Donaldson M. et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.. J Clin Endocrinol Metab 2014; 99: 363-384.
• 3 Kratzsch J, Schubert G, Pulzer F. et al. Reference intervals for TSH and thyroid hormones are mainly affected by age, body mass index and number of blood leucocytes, but hardly by gender and thyroid autoantibodies during the first decades of life.. Clin Biochem 2008; 41: 1091-1098.
• 4 R Core Team R.. A language and environment for statistical computing.. R Foundation for Statistical Computing. 2016
• 5 Bates D, Maechler M, Bolker B. et al. Fitting Linear Mixed-Effects Models Using Ime4.. Journal of Statistical Software 2015; 67: 1-48.
• 6 Hothorn T, Bretz F, Westfall P. Simultaneous Interference in General Parametric Models.. Biometrical Journal 2008; 50: 346-363.
• 7 Kromeyer-Hauschild K, Wabitsch M, Kunze D. et al. Percentiles of body mass index in children and adolescents evaluated from different regional German studies.. Monatsschr für Kinderheilkd 2001; 149: 807-818.
• 8 Klein AH, Meltzer S, Kenny FM. Improved prognosis in congenital hypothyroidism treated before age three months.. J Pediatr 1972; 81: 912-915.
• 9 Grosse SD, Van Vliet G. Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?. Arch Dis Child 2011; 96: 374-379.
• 10 Bongers-Schokking JJ, Resing WC, de Rijke YB. et al. Cognitive development in congenital hypothyroidism: is overtreatment a greater threat than undertreatment?. J Clin Endocrinol Metab 2013; 98: 4499-4506.
• 11 Bernal J, Nunez J. Thyroid hormones and brain development.. Eur J Endocrinol 1995; 133: 390-398.
• 12 Bongers-Schokking JJ, Koot HM, Wiersma D. et al. Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism.. J Pediatr 2000; 136: 292-297.
• 13 Salerno M, Militerni R, Bravaccio C. et al. Effect of different starting doses of levothyroxine on growth and intellectual outcome at four years of age in congenital hypothyroidism.. Thyroid 2002; 12: 45-52.
• 14 Selva KA, Harper A, Downs A. et al. Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4 dose and time to reach target T4 and TSH.. J Pediatr 2005; 147: 775-780.
• 15 Dimitropoulos A, Moliinari L, Etter K. et al. Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment.. Pediatr Res 2009; 65: 242-248.
• 16 Heyerdahl S. Treatment variables as predictors of intellectual outcome in children with congenital hypothyroidism.. Eur J Pediatr 1996; 155: 357-361.
• 17 Oerbeck B, Sundet K, Kase BF. et al. Congenital hypothyroidism: influence of disease severity and L-thyroxine treatment on intellectual, motor, and school-associated outcomes in young adults.. Pediatrics 2003; 112: 923-930.
• 18 Kreisner E, Schermann L, Camargo-Neto E. et al. Predictors of intellectual outcome in a cohort of Brazilian children with congenital hypothyroidism.. Clin Endocrinol (Oxf) 2004; 60: 250-255.
• 19 Heyerdahl S, Oerbeck B. Congenital hypothyroidism: developmental outcome in relation to levothyroxine treatment variables.. Thyroid 2003; 13: 1029-1038.
• 20 Alvarez M, Iglesias Fernandez C, Rodiguez Sanchez A. et al. Episodes of overtreatment during the first six months in children with congenital hypothyroidism and their relationships with sustained attention and inhibitory control at school age.. Horm Res Paediatr 2010; 74: 114-120.
• 21 Ellerbroek VL, Bonfig W, Dörr HG. et al. Long-term Surveillance of Children with Congenital Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE „Hypo Dok“).. Klin Padiatr 2015; 227: 199-205.
• 22 Livadas S, Magiakou MA, Mengreli C. et al. Obesity and attenuated adiposity rebound in children with congenital hypothyroidism.. Normalization of BMI values in adolescents. Horm Metab Res 2007; 39: 524-528.
• 23 Bruno R, Aversa T, Catena M. et al. Even in the era of congenital hypothyroidism screening mild and subclinical sensorineural hearing loss remains a relatively common complication of severe congenital hypothyroidism.. Hear Res 2015; 327: 43-47.
• 24 Lichtenberger-Geslin L, Dos Santos S, Hassani Y. et al. Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study.. J Clin Endocrinol Metab 2013; 98: 3644-3652.
• 25 Rovet JF. Children with congenital hypothyroidism and their siblings: do they really differ?. Pediatrics 2005; 115: e52-e57.
• 26 Komur M, Ozen S, Okuyaz C. et al. Neurodevelopment evaluation in children with congenital hypothyroidism by Bayley-III.. Brain Dev 2013; 35: 392-397.
• 27 Rovet JF, Ehrlich R. Psychoeducational outcome in children with early-treated congenital hypothyroidism.. Pediatrics 2000; 105: 515-522.
• 28 Huo K, Zhang Z, Zhao D. et al. Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment.. Endocr J 2011; 58: 355-361.
• 29 Kempers MJ, van der Sluijs Veer L, Nijhuis-van der Sanden MW. et al. Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening.. J Clin Endocrinol Metab 2006; 91: 418-424.
• 30 Kempers MJ, van der Sluijs Veer L, Nijhuis-van der Sanden RW. et al. Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age.. J Clin Endocrinol Metab 2007; 92: 919-924.