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患有肌病、胰腺功能不全和近端肾小管功能障碍的成年囊性纤维化患者的佝偻病

Rickets in adult cystic fibrosis with myopathy, pancreatic insufficiency and proximal renal tubular dysfunction.

作者信息

Scott J, Elias E, Moult P J, Barnes S, Wills M R

出版信息

Am J Med. 1977 Sep;63(3):488-92. doi: 10.1016/0002-9343(77)90290-x.

DOI:10.1016/0002-9343(77)90290-x
PMID:900151
Abstract

Rickets is reported in a 19 year old white man with cystic fibrosis in whom pancreatic and hepatic involvement was advanced. There was evidence of secondary hyperparathyroidism with proximal renal tubular acidosis, aminoaciduria, phosphaturia and hypophosphatemia. Treatment with oral pancreatic and parenteral vitamin D supplements led to full recovery of the rachitic syndrome and the proximal renal tubular dysfunction.

摘要

据报道,一名19岁患有囊性纤维化的白人男性患有佝偻病,其胰腺和肝脏受累情况严重。有继发性甲状旁腺功能亢进的证据,伴有近端肾小管酸中毒、氨基酸尿、磷尿和低磷血症。口服胰腺制剂和肠外补充维生素D治疗后,佝偻病综合征和近端肾小管功能障碍完全恢复。

相似文献

1
Rickets in adult cystic fibrosis with myopathy, pancreatic insufficiency and proximal renal tubular dysfunction.患有肌病、胰腺功能不全和近端肾小管功能障碍的成年囊性纤维化患者的佝偻病
Am J Med. 1977 Sep;63(3):488-92. doi: 10.1016/0002-9343(77)90290-x.
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Rickets with hypophosphatemia, hypokalemia and normal anion gap metabolic acidosis: not always an easy diagnosis.伴有低磷血症、低钾血症及正常阴离子间隙代谢性酸中毒的佝偻病:诊断并非总是易事。
BMJ Case Rep. 2020 Jan 21;13(1):e233350. doi: 10.1136/bcr-2019-233350.
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[Vitamin D-dependent rickets and renal tubular acidosis. Clinical and metabolic effects of 1,25-dihydroxyvitamin D].维生素D依赖性佝偻病与肾小管性酸中毒。1,25-二羟维生素D的临床及代谢效应
Rev Med Chil. 1982 Dec;110(12):1213-8.
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Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy.维生素D缺乏:一个被遗忘的可治疗的运动发育迟缓及近端肌病病因。
Brain Dev. 2014 Jan;36(1):84-7. doi: 10.1016/j.braindev.2012.11.014. Epub 2012 Dec 27.
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Combined reversible insufficiency of the proximal tubule and rickets due to primary hyperparathyroidism (adenoma).原发性甲状旁腺功能亢进(腺瘤)所致近端肾小管联合可逆性功能不全及佝偻病
Mater Med Pol. 1973 Apr-Jun;5(2):122-5.
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Defective proximal tubular function in a patient with I-cell disease.
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Renal tubular dysfunction of vitamin-D deficiency rickets.维生素D缺乏性佝偻病的肾小管功能障碍
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Proximal renal tubular acidosis in vitamin D deficiency rickets.
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The pathophysiology and management of rickets.
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Renal tubular acidosis and skeletal demineralization in patients on long-term anticonvulsant therapy.长期接受抗惊厥治疗患者的肾小管酸中毒和骨骼脱矿质作用。
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引用本文的文献

1
Case report: Reversible Fanconi syndrome due to vitamin D deficiency in a patient with epilepsy harbouring a pathogenic variant in the SLC34A1 gene.病例报告:一名患有癫痫且携带SLC34A1基因致病性变异的患者因维生素D缺乏导致可逆性范科尼综合征。
Front Endocrinol (Lausanne). 2025 Mar 28;16:1553032. doi: 10.3389/fendo.2025.1553032. eCollection 2025.
2
Why bother to take vitamins?为什么要费神服用维生素呢?
J R Soc Med. 2011 Jul;104 Suppl 1(Suppl 1):S19-29. doi: 10.1258/jrsm.2011.s11104.
3
The role of vitamins in cystic fibrosis.维生素在囊性纤维化中的作用。
J R Soc Med. 2000;93 Suppl 38(Suppl 38):14-9.
4
Vitamin status in treated patients with cystic fibrosis.接受治疗的囊性纤维化患者的维生素状况。
Arch Dis Child. 1981 Sep;56(9):708-14. doi: 10.1136/adc.56.9.708.
5
Scoliosis in cystic fibrosis--an appraisal.囊性纤维化中的脊柱侧凸——一项评估。
Skeletal Radiol. 1982;8(1):63-66. doi: 10.1007/BF00361373.
6
Pharmacology and therapeutic use of vitamin D and its analogues.维生素D及其类似物的药理学与治疗用途。
Drugs. 1981 Apr;21(4):241-56. doi: 10.2165/00003495-198121040-00001.
7
Vitamin D and parathyroid hormone and bone mineralisation in adults with cystic fibrosis.成人囊性纤维化患者的维生素D、甲状旁腺激素与骨矿化
Thorax. 1988 Mar;43(3):190-4. doi: 10.1136/thx.43.3.190.
8
Pharmacokinetics of drugs in cystic fibrosis.囊性纤维化患者体内药物的药代动力学
Clin Rev Allergy. 1991 Spring-Summer;9(1-2):169-210. doi: 10.1007/978-1-4612-0475-6_11.