{"title":"特立帕肽治疗青少年骨质疏松-假性胶质瘤综合征(OPPG)的临床反应:1例报告。","authors":"Ali Homaei, Victoria Chegini, Fatemeh Saffari","doi":"10.5812/ijem-121031","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that leads to vision loss. In this study, we report the outcome of a short period of treatment with teriparatide in one patient with OPPG.</p><p><strong>Case presentation: </strong>The patient was a 17-year-old girl who suffered a bone fracture at the age of two and was diagnosed with OPPG at the age of three. Genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported. She was treated with pamidronate, but the bone fracture increased, and the disability progressed. Therefore, at the age of 11 years and nine months, teriparatide was administered subcutaneously at a dose of 20 micrograms per day for four consecutive months. After the treatment with teriparatide, physical activity was achieved, and no further fractures were observed besides the gradual rise in bone mineral density (BMD) (from 0.532 to 0.711 gr/cm<sup>2</sup> in lumbar spine and 0.372 to 0.635 gr/cm<sup>2</sup> in femur neck).</p><p><strong>Conclusions: </strong>In children and adolescents diagnosed with OPPG who do not respond to other conventional therapies, short courses of teriparatide therapy may be helpful.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"20 2","pages":"e121031"},"PeriodicalIF":2.1000,"publicationDate":"2022-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6b/42/ijem-20-2-121031.PMC9383542.pdf","citationCount":"4","resultStr":"{\"title\":\"Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.\",\"authors\":\"Ali Homaei, Victoria Chegini, Fatemeh Saffari\",\"doi\":\"10.5812/ijem-121031\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that leads to vision loss. In this study, we report the outcome of a short period of treatment with teriparatide in one patient with OPPG.</p><p><strong>Case presentation: </strong>The patient was a 17-year-old girl who suffered a bone fracture at the age of two and was diagnosed with OPPG at the age of three. Genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported. She was treated with pamidronate, but the bone fracture increased, and the disability progressed. Therefore, at the age of 11 years and nine months, teriparatide was administered subcutaneously at a dose of 20 micrograms per day for four consecutive months. After the treatment with teriparatide, physical activity was achieved, and no further fractures were observed besides the gradual rise in bone mineral density (BMD) (from 0.532 to 0.711 gr/cm<sup>2</sup> in lumbar spine and 0.372 to 0.635 gr/cm<sup>2</sup> in femur neck).</p><p><strong>Conclusions: </strong>In children and adolescents diagnosed with OPPG who do not respond to other conventional therapies, short courses of teriparatide therapy may be helpful.</p>\",\"PeriodicalId\":13969,\"journal\":{\"name\":\"International Journal of Endocrinology and Metabolism\",\"volume\":\"20 2\",\"pages\":\"e121031\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2022-04-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6b/42/ijem-20-2-121031.PMC9383542.pdf\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Endocrinology and Metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5812/ijem-121031\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/4/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Endocrinology and Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5812/ijem-121031","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/4/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report.
Introduction: Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterized by severe osteoporosis and eye abnormalities that leads to vision loss. In this study, we report the outcome of a short period of treatment with teriparatide in one patient with OPPG.
Case presentation: The patient was a 17-year-old girl who suffered a bone fracture at the age of two and was diagnosed with OPPG at the age of three. Genetic testing was performed for the patient, and a novel homozygous nonsense mutation (c.351G>A) in exon 2 of the LRP5 gene was reported. She was treated with pamidronate, but the bone fracture increased, and the disability progressed. Therefore, at the age of 11 years and nine months, teriparatide was administered subcutaneously at a dose of 20 micrograms per day for four consecutive months. After the treatment with teriparatide, physical activity was achieved, and no further fractures were observed besides the gradual rise in bone mineral density (BMD) (from 0.532 to 0.711 gr/cm2 in lumbar spine and 0.372 to 0.635 gr/cm2 in femur neck).
Conclusions: In children and adolescents diagnosed with OPPG who do not respond to other conventional therapies, short courses of teriparatide therapy may be helpful.
期刊介绍:
The aim of the International Journal of Endocrinology and Metabolism (IJEM) is to increase knowledge, stimulate research in the field of endocrinology, and promote better management of patients with endocrinological disorders. To achieve this goal, the journal publishes original research papers on human, animal and cell culture studies relevant to endocrinology.