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坦桑尼亚穆希姆比利国家医院维生素D抵抗性佝偻病的诊断与治疗挑战

Vitamin D-Resistant Rickets Diagnostics and Treatment Challenges at Muhimbili National Hospital, Tanzania.

作者信息

Godfrey Evance K, Mussa Fatima, Kazahura Parvina, Shoo Aika, Naburi Helga, Manji Karim P

机构信息

Department of Paediatrics and Child Health, Muhimbili University of Health and Allied Sciences (MUHAS), Dar es Salaam, Tanzania.

出版信息

Case Rep Endocrinol. 2020 Jan 28;2020:1547170. doi: 10.1155/2020/1547170. eCollection 2020.

Abstract

UNLABELLED

. Rickets is softening of bones caused by defective mineralization of the cartilage in the epiphyseal growth plate, causing widening of the ends of long bones, growth retardation, and skeletal deformities in children. It can be classified into calciopenic and phosphopenic, each type with various subclasses. . We presented 2 cases, first of a 1 year and 4-month-old male, with a history of recurrent episodes of cough for 8 months and bowing of the legs 6 months prior to admission. Clinical and laboratory investigation was suggestive of vitamin D-dependent rickets, and he started vitamin D treatment with minimal response. The second case is of a 4 years and 7-month-old male who presented with developmental delay, poor weight gain, and recurrent chest infection and worsening of bone pain since 9 months of age. Laboratory investigation was suggestive of phosphopenic rickets, and he was started on treatment at 9 months of age with little improvement and at 4 years, he sustained multiple fractures and succumbed to severe respiratory tract infection and died at 4 years and 7 months of age.

CONCLUSION

Rickets pose a diagnostic and treatment challenge in resource-limited countries, and clinical judgment and early initiation of treatment are important.

摘要

未标注

佝偻病是由于骨骺生长板软骨矿化缺陷导致的骨骼软化,可引起儿童长骨末端增宽、生长发育迟缓及骨骼畸形。可分为钙缺乏性和磷缺乏性,每种类型又有不同的亚类。我们报告了2例病例,第一例为一名1岁4个月大的男性,有8个月反复咳嗽病史,入院前6个月出现腿部弯曲。临床和实验室检查提示维生素D依赖性佝偻病,开始维生素D治疗后反应甚微。第二例为一名4岁7个月大的男性,自9个月大起出现发育迟缓、体重增加不佳、反复胸部感染及骨痛加重。实验室检查提示磷缺乏性佝偻病,9个月大时开始治疗,改善甚微,4岁时发生多处骨折,因严重呼吸道感染死亡,年仅4岁7个月。

结论

在资源有限的国家,佝偻病在诊断和治疗方面存在挑战,临床判断和早期开始治疗很重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee01/7008276/1dd760198b5e/CRIE2020-1547170.001.jpg

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