Tác động của chăm sóc chuyển tiếp đến các tham số nội tiết và nhân trắc trong hội chứng Prader–Willi
Tóm tắt
Sự chuyển tiếp của những bệnh nhân mắc hội chứng Prader–Willi (PWS) sang cuộc sống trưởng thành để nhận được sự chăm sóc y tế là một thách thức do nhiều bệnh lý kèm theo, bao gồm thiếu hụt hormone, béo phì và các khuyết tật về nhận thức và hành vi.
Để đánh giá quản lý nội tiết, cũng như các tham số chuyển hóa và nhân trắc ở người lớn mắc PWS đã nhận (
Các tham số nội tiết và chuyển hóa đã được ghi lại một cách hồi cứu ở 95 người lớn mắc PWS (tuổi trung bình ±
Trong toàn bộ nhóm nghiên cứu, 35.8% đã nhận hormone tăng trưởng (GH) trong thời thơ ấu và 16.8% đã thực hiện bài kiểm tra kích thích GH sau khi hoàn tất tăng trưởng. Ở tuổi trưởng thành, 14.7% được điều trị bằng GH, 56.8% nhận liệu pháp hormone giới tính, trong khi 91.1% bị thiểu năng sinh dục và 37.9% đã được sàng lọc hợp lệ trục corticotropic. Lý do chính cho việc quản lý nội tiết không tối ưu là rối loạn hành vi nghiêm trọng. Những bệnh nhân nhận chăm sóc chuyển tiếp có khả năng đã thực hiện bài kiểm tra kích thích GH và thay thế hormone cao hơn trong thời thơ ấu. Họ cũng có chỉ số BMI thấp hơn, tỉ lệ mỡ cơ thể thấp hơn, các tham số chuyển hóa cải thiện và ít điều trị bằng thuốc chống trầm cảm hơn. Chăm sóc chuyển tiếp vẫn giữ mối liên hệ đáng kể với các tham số này trong phân tích đa biến khi điều chỉnh theo điều trị GH.
Một lộ trình chăm sóc có phối hợp với sự chăm sóc dành cho trẻ em chuyên biệt và chuyển tiếp đến một nhóm đa ngành dành cho người lớn có kinh nghiệm trong việc quản lý các khuyết tật phức tạp, bao gồm các vấn đề tâm thần, có liên quan đến tình trạng sức khỏe tốt hơn ở người lớn mắc PWS.
Từ khóa
Tài liệu tham khảo
2015, Unaltered ratio of circulating levels of growth hormone/GH isoforms in adults with Prader-Willi syndrome after GHRH plus arginine administration, Growth Hormone and IGF Research, 25, 168, 10.1016/j.ghir.2015.06.002
2012, Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis, Clinical Endocrinology, 77, 86, 10.1111/j.1365-2265.2011.04303.x
2013, Central adrenal insufficiency in young adults with Prader-Willi syndrome, Clinical Endocrinology, 79, 371, 10.1111/cen.12150
2010, Endocrine disorders in children with Prader-Willi syndrome – data from 142 children of the French database, Hormone Research in Paediatrics, 74, 121, 10.1159/000313377
2008, Recommendations for the diagnosis and management of Prader-Willi syndrome, Journal of Clinical Endocrinology and Metabolism, 93, 4183, 10.1210/jc.2008-0649
2014, Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader-Willi syndrome, American Journal of Medical Genetics Part A, 164A, 671
2010, Endocrine disorders in children with Prader-Willi syndrome – data from 142 children of the French database, Hormone Research in Paediatrics, 74, 121, 10.1159/000313377
Autorité, 2012, Haute de Willi syndrome National protocol for diagnosis and care for rare diseases Paris Haute Autorité de available at https www has sante fr portail plugins ModuleXitiKLEE types FileDocument doXiti jsp id c
2008, High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome, Journal of Clinical Endocrinology and Metabolism, 93, 1649, 10.1210/jc.2007-2294
2005, Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader-Willi syndrome, Journal of Intellectual Disability Research, 49, 245, 10.1111/j.1365-2788.2005.00641.x
2014, Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome, Journal of Pediatric Endocrinology and Metabolism, 27, 511
2017, Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood, Endocrine Connections, 6, 422, 10.1530/EC-17-0094
2016, Diagnosis and treatment of GH deficiency in Prader-Willi syndrome, Best Practice and Research: Clinical Endocrinology and Metabolism, 30, 785, 10.1016/j.beem.2016.11.003
CoupayeMLorenziniFLloret Growth hormone therapy for children and adolescents with Prader - Willi syndrome is associated with improved body composition and metabolic status in adulthood of and https org, Journal Clinical Endocrinology Metabolism, 201398, 10.1210/jc.2012-2881
2013, Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study, American Journal of Medical Genetics Part A, 161A, 2167
2012, Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis, Clinical Endocrinology, 77, 86, 10.1111/j.1365-2265.2011.04303.x
Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children, Hormone Research, 279
2008, Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype, Archives of Disease in Childhood, 93, 1012, 10.1136/adc.2007.123836
2001, The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria, Pediatrics, 108, E92, 10.1542/peds.108.5.e92
2001, Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH, Endocrine Reviews, 22, 787, 10.1210/edrv.22.6.0447
2013, Central adrenal insufficiency in young adults with Prader-Willi syndrome, Clinical Endocrinology, 79, 371, 10.1111/cen.12150
2011, The GH/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome, Hormone Research in Paediatrics, 75, 403, 10.1159/000323442
2007, Thyroid function studies in Prader-Willi syndrome, American Journal of Medical Genetics Part A, 143A, 488, 10.1002/ajmg.a.31683
2008, Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype, Archives of Disease in Childhood, 93, 1012, 10.1136/adc.2007.123836
2005, Consensus statement on the management of the GH-treated adolescent in the transition to adult care, European Journal of Endocrinology, 152, 165, 10.1530/eje.1.01829
2015, Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings, Journal of Endocrinological Investigation, 38, 1249, 10.1007/s40618-015-0312-9
2004, Noncompliance with immunosuppressive medications in pediatric and adolescent patients receiving solid-organ transplants, Transplantation, 77, 778, 10.1097/01.TP.0000110410.11524.7B
Hokken, der Bridging the gap metabolic and endocrine care of patients during transition Connections https org, Endocrine, 20165, 10.1530/EC-16-0028
2001, The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria, Pediatrics, 108, E92, 10.1542/peds.108.5.e92
Autorité, 2012, Haute de Willi syndrome National protocol for diagnosis and care for rare diseases Paris Haute Autorité de available at https www has sante fr portail plugins ModuleXitiKLEE types FileDocument doXiti jsp id c
2016, Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial, Orphanet Journal of Rare Diseases, 11, 153, 10.1186/s13023-016-0535-7
2008, Recommendations for the diagnosis and management of Prader-Willi syndrome, Journal of Clinical Endocrinology and Metabolism, 93, 4183, 10.1210/jc.2008-0649
PartschCJLämmerCGillessen KaesbachGPankauR Adult patients with Prader - Willi syndrome : clinical characteristics life circumstances and growth hormone secretion Growth Hormone Research Supplement https org, 81
2016, Diagnosis and treatment of GH deficiency in Prader-Willi syndrome, Best Practice and Research: Clinical Endocrinology and Metabolism, 30, 785, 10.1016/j.beem.2016.11.003
2011, The Growth Hormone in Prader - Willi Syndrome Clinical Care Guidelines Workshop Participants workshop summary : consensus guidelines for recombinant human growth hormone therapy in Prader - Willi syndrome and https org, Growth Hormone Research Society Journal of Clinical Endocrinology Metabolism, 201398, 10.1210/jc.2012-3888
2001, Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH, Endocrine Reviews, 22, 787, 10.1210/edrv.22.6.0447
2008, Growth hormone therapy improves exercise capacity in adult patients with Prader-Willi syndrome, Journal of Endocrinological Investigation, 31, 765, 10.1007/BF03349255
CoupayeMLorenziniFLloret Growth hormone therapy for children and adolescents with Prader - Willi syndrome is associated with improved body composition and metabolic status in adulthood of and https org, Journal Clinical Endocrinology Metabolism, 201398, 10.1210/jc.2012-2881
PartschCJLämmerCGillessen KaesbachGPankauR Adult patients with Prader - Willi syndrome : clinical characteristics life circumstances and growth hormone secretion Growth Hormone Research Supplement https org, 81
2010, Dementia in a woman with Prader-Willi syndrome, European Journal of Medical Genetics, 53, 145, 10.1016/j.ejmg.2010.02.006
KIGS highlights: growth hormone treatment in Prader-Willi syndrome, Hormone Research, 48
2015, Unaltered ratio of circulating levels of growth hormone/GH isoforms in adults with Prader-Willi syndrome after GHRH plus arginine administration, Growth Hormone and IGF Research, 25, 168, 10.1016/j.ghir.2015.06.002
2014, Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome, Journal of Pediatric Endocrinology and Metabolism, 27, 511
2016, Effect of genotype and previous GH treatment on adiposity in adults with Prader-Willi syndrome, Journal of Clinical Endocrinology and Metabolism, 101, 4895, 10.1210/jc.2016-2163
1997, Panhypopituitarism as a model to study the metabolism of dehydroepiandrosterone (DHEA) in humans, Journal of Clinical Endocrinology and Metabolism, 82, 2578
2002, The behavioral impact of growth hormone treatment for children and adolescents with Prader-Willi syndrome: a 2-year, controlled study, Pediatrics, 109, E35, 10.1542/peds.109.2.e35
2002, Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity, Journal of Clinical Endocrinology and Metabolism, 87, 3590, 10.1210/jcem.87.8.8735
2016, Effect of genotype and previous GH treatment on adiposity in adults with Prader-Willi syndrome, Journal of Clinical Endocrinology and Metabolism, 101, 4895, 10.1210/jc.2016-2163
2006, Transition: getting it right for young people, Clinical Medicine, 6, 497, 10.7861/clinmedicine.6-5-497
KIGS highlights: growth hormone treatment in Prader-Willi syndrome, Hormone Research, 48
Neurobehavioral phenotype in Prader-Willi syndrome., American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C, 438, 10.1002/ajmg.c.30283
2017, Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome, Orphanet Journal of Rare Diseases, 12, 118, 10.1186/s13023-017-0673-6
2017, Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome, Orphanet Journal of Rare Diseases, 12, 118, 10.1186/s13023-017-0673-6
Hokken, der Bridging the gap metabolic and endocrine care of patients during transition Connections https org, Endocrine, 20165, 10.1530/EC-16-0028
1997, Panhypopituitarism as a model to study the metabolism of dehydroepiandrosterone (DHEA) in humans, Journal of Clinical Endocrinology and Metabolism, 82, 2578
2005, Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader-Willi syndrome, Journal of Intellectual Disability Research, 49, 245, 10.1111/j.1365-2788.2005.00641.x
2017, Metabolic health profile in young adults with Prader-Willi syndrome: results of a 2-year randomized, placebo-controlled, crossover GH trial, Clinical Endocrinology, 86, 297, 10.1111/cen.13247
2008, High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome, Journal of Clinical Endocrinology and Metabolism, 93, 1649, 10.1210/jc.2007-2294
2006, Transition: getting it right for young people, Clinical Medicine, 6, 497, 10.7861/clinmedicine.6-5-497
2010, Dementia in a woman with Prader-Willi syndrome, European Journal of Medical Genetics, 53, 145, 10.1016/j.ejmg.2010.02.006
2017, Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood, Endocrine Connections, 6, 422, 10.1530/EC-17-0094
2011, The Growth Hormone in Prader - Willi Syndrome Clinical Care Guidelines Workshop Participants workshop summary : consensus guidelines for recombinant human growth hormone therapy in Prader - Willi syndrome and https org, Growth Hormone Research Society Journal of Clinical Endocrinology Metabolism, 201398, 10.1210/jc.2012-3888
2015, Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings, Journal of Endocrinological Investigation, 38, 1249, 10.1007/s40618-015-0312-9
2002, Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity, Journal of Clinical Endocrinology and Metabolism, 87, 3590, 10.1210/jcem.87.8.8735
2017, Metabolic health profile in young adults with Prader-Willi syndrome: results of a 2-year randomized, placebo-controlled, crossover GH trial, Clinical Endocrinology, 86, 297, 10.1111/cen.13247
2002, The behavioral impact of growth hormone treatment for children and adolescents with Prader-Willi syndrome: a 2-year, controlled study, Pediatrics, 109, E35, 10.1542/peds.109.2.e35
2007, Thyroid function studies in Prader-Willi syndrome, American Journal of Medical Genetics Part A, 143A, 488, 10.1002/ajmg.a.31683
2005, Consensus statement on the management of the GH-treated adolescent in the transition to adult care, European Journal of Endocrinology, 152, 165, 10.1530/eje.1.01829
2014, Exacerbation of BMI after cessation of growth hormone therapy in patients with Prader-Willi syndrome, American Journal of Medical Genetics Part A, 164A, 671
2008, Growth hormone therapy improves exercise capacity in adult patients with Prader-Willi syndrome, Journal of Endocrinological Investigation, 31, 765, 10.1007/BF03349255
Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children, Hormone Research, 279
2011, The GH/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome, Hormone Research in Paediatrics, 75, 403, 10.1159/000323442
2013, Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study, American Journal of Medical Genetics Part A, 161A, 2167
2010, Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life, Clinical Endocrinology, 73, 546, 10.1111/j.1365-2265.2010.03840.x
2004, Noncompliance with immunosuppressive medications in pediatric and adolescent patients receiving solid-organ transplants, Transplantation, 77, 778, 10.1097/01.TP.0000110410.11524.7B
Neurobehavioral phenotype in Prader-Willi syndrome., American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C, 438, 10.1002/ajmg.c.30283
2016, Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial, Orphanet Journal of Rare Diseases, 11, 153, 10.1186/s13023-016-0535-7