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维生素D依赖性佝偻病:21世纪佝偻病性肺病的再度出现。

Vitamin D-dependent rickets: a resurgence of the rachitic lung in the 21st century.

作者信息

Fernandes Ana S C, Lobo Sandra, Sandes Ana Rita, Simão Carla, Lobo Luisa, Bandeira Teresa

机构信息

Respiratory Unit, Department of Paediatrics, Santa Maria Hospital, Academic Center, Lisbon, Portugal.

Department of Paediatrics, Doutor Agostinho Neto Hospital, Praia, Cape Verde.

出版信息

BMJ Case Rep. 2015 Oct 19;2015:bcr2015212639. doi: 10.1136/bcr-2015-212639.

Abstract

Respiratory complications of rickets may be life-threatening particularly in developing countries. A 7-month-old boy presented with recurrent infections, seizures, failure to thrive, wheezing and respiratory distress progressing to global respiratory failure. Several antimicrobial regimens, bronchodilators and corticosteroids resulted in only short-term improvement. He was transferred from Cape Verde to a third-care hospital in Portugal. He was hypotonic and undernourished, with respiratory anguish and classical skeletal signs of rickets, despite vitamin D supplementation. Hypocalcaemia, normal phosphate levels and normal vitamin D status 25(OH)D3 and 1.25(OH)2D3) pointed to vitamin D-dependent rickets type II. Treatment with high doses of calcium and calcitriol allowed progressive respiratory, musculoskeletal and neurological recovery. Although respiratory manifestations of rickets were described many years ago, the present case raises relevant issues about the level of diagnostic support, the risk of complications and how they should be assessed and monitored.

摘要

佝偻病的呼吸系统并发症可能危及生命,在发展中国家尤为如此。一名7个月大的男童出现反复感染、癫痫发作、发育不良、喘息和呼吸窘迫,最终发展为全面呼吸衰竭。多种抗菌治疗方案、支气管扩张剂和皮质类固醇仅带来了短期改善。他从佛得角被转至葡萄牙的一家三级护理医院。尽管补充了维生素D,但他肌张力低下、营养不良,有呼吸窘迫以及佝偻病的典型骨骼体征。低钙血症、正常的磷酸盐水平以及正常的维生素D状态(25(OH)D3 和 1.25(OH)2D3)提示为II型维生素D依赖性佝偻病。高剂量钙和骨化三醇治疗使呼吸、肌肉骨骼和神经系统逐渐恢复。尽管佝偻病的呼吸系统表现早在多年前就有描述,但本病例引发了有关诊断支持水平、并发症风险以及应如何评估和监测这些并发症的相关问题。

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本文引用的文献

1
[Severe nutritional deficiencies in young infants with inappropriate plant milk consumption].
Arch Pediatr. 2014 May;21(5):483-8. doi: 10.1016/j.arcped.2014.02.027. Epub 2014 Apr 13.
2
Congenital rickets presenting as refractory respiratory distress at birth.
Indian J Pediatr. 2014 Aug;81(8):800-2. doi: 10.1007/s12098-013-1099-3. Epub 2013 Jun 15.
3
Hypovitaminosis D and severe hypocalcaemia: the rebirth of an old disease.
BMJ Case Rep. 2013 May 31;2013:bcr2012007406. doi: 10.1136/bcr-2012-007406.
5
Minireview: Vitamin D: is there a role in extraskeletal health?
Endocrinology. 2011 Aug;152(8):2930-6. doi: 10.1210/en.2011-0243. Epub 2011 Jun 14.
6
Genetic disorders and defects in vitamin d action.
Endocrinol Metab Clin North Am. 2010 Jun;39(2):333-46, table of contents. doi: 10.1016/j.ecl.2010.02.004.
7
Vitamin D and The Magic Mountain: the anti-infectious role of the vitamin.
J Pediatr. 2010 May;156(5):698-703. doi: 10.1016/j.jpeds.2010.02.002.
8
Respiratory distress: a rare presentation of rickets.
J Ayub Med Coll Abbottabad. 2006 Jul-Sep;18(3):67-8.
9
Rickets: not a disease of the past.
Am Fam Physician. 2006 Aug 15;74(4):619-26.

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