肾小管酸中毒、骨硬化症和脑钙化：一种由碳酸酐酶II缺乏引起的罕见综合征。 - Suppr

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超能文献

Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency.

作者信息

Laway B A, Mubarik I

机构信息

Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu and Kashmir, India.

出版信息

Indian J Nephrol. 2017 Jul-Aug;27(4):330-331. doi: 10.4103/0971-4065.209347.

DOI:10.4103/0971-4065.209347

PMID:28761241

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5514835/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a174/5514835/8724ed3e0aa7/IJN-27-330-g002.jpg

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Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification.碳酸酐酶 II 缺乏综合征：伴有肾小管酸中毒和脑钙化的隐性骨硬化症。

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Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.碳酸酐酶II缺乏综合征（伴有肾小管酸中毒和脑钙化的骨质石化症）：通过直接测序鉴定出的CA2新突变增加了基因型与表型相关性研究的机会。

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Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.碳酸酐酶II缺乏被确定为伴有肾小管酸中毒和脑钙化的常染色体隐性骨硬化综合征的主要缺陷。

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Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification).病例报告668. 碳酸酐酶II缺乏综合征（骨硬化症伴肾小管性酸中毒和脑钙化）

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本文引用的文献

Osteopetrorickets: case report.骨质石化性佝偻病：病例报告

Eur J Pediatr. 2000 Aug;159(8):579-81. doi: 10.1007/s004310000485.

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters.三姐妹患骨硬化症、肾小管酸中毒和基底节钙化。

Am J Med. 1980 Jul;69(1):64-74. doi: 10.1016/0002-9343(80)90501-x.

Morphological evidence of reduced bone resorption in osteopetrotic (op) mice.骨石化（op）小鼠骨吸收减少的形态学证据。

Am J Anat. 1982 Feb;163(2):157-67. doi: 10.1002/aja.1001630205.

Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity?

Eur J Pediatr. 1990 Feb;149(5):337-40. doi: 10.1007/BF02171561.

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