罕见的伴同情况：一名患有高钙血症、肾钙质沉着症和酸中毒的婴儿：答案 - Suppr

Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers.

作者信息

Ehlayel Abdulla M, Copelovitch Lawrence

机构信息

Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19014-4339, USA.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

出版信息

Pediatr Nephrol. 2018 Oct;33(10):1697-1699. doi: 10.1007/s00467-018-3912-8. Epub 2018 Feb 19.

DOI:10.1007/s00467-018-3912-8

PMID:29460158

Abstract

摘要

相似文献

Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers.罕见的伴同情况：一名患有高钙血症、肾钙质沉着症和酸中毒的婴儿：答案

Pediatr Nephrol. 2018 Oct;33(10):1697-1699. doi: 10.1007/s00467-018-3912-8. Epub 2018 Feb 19.

Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Questions.罕见的伴同情况：一名患有高钙血症、肾钙质沉着症和酸中毒的婴儿：问题

Pediatr Nephrol. 2018 Oct;33(10):1695. doi: 10.1007/s00467-018-3887-5. Epub 2018 Feb 19.

An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Answers.一名患有高钙血症和高氨血症的婴儿：是否为先天性代谢缺陷？答案。

Pediatr Nephrol. 2019 Feb;34(2):251-252. doi: 10.1007/s00467-018-4022-3. Epub 2018 Jul 19.

[Primary distal renal tubular acidosis in children in the South of Tunisia: study of 15 cases].[突尼斯南部儿童原发性远端肾小管酸中毒：15例病例研究]

Tunis Med. 2013 Apr;91(4):258-62.

Treatment and long-term outcome in primary distal renal tubular acidosis.原发性远端肾小管性酸中毒的治疗及长期预后。

Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409.

An infant with multiple subcutaneous nodules, hypercalcemia, and nephrocalcinosis.一名患有多个皮下结节、高钙血症和肾钙质沉着症的婴儿。

Pediatr Nephrol. 2013 Dec;28(12):2283-7. doi: 10.1007/s00467-012-2400-9. Epub 2013 Jan 31.

A rare case of congenital distal renal tubular acidosis combined with medullary sponge kidney.先天性远端肾小管酸中毒合并海绵肾的罕见病例。

Urol Int. 2014;92(2):246-9. doi: 10.1159/000350907. Epub 2013 Jul 10.

Distal renal tubular acidosis: genetic causes and management.远端肾小管性酸中毒：遗传病因与治疗。

World J Pediatr. 2019 Oct;15(5):422-431. doi: 10.1007/s12519-019-00260-4. Epub 2019 May 11.

Report of a family with two different hereditary diseases leading to early nephrocalcinosis.一个患有两种导致早期肾钙质沉着症的不同遗传性疾病的家庭报告。

Pediatr Nephrol. 2008 Jan;23(1):149-53. doi: 10.1007/s00467-007-0584-1. Epub 2007 Sep 26.

[Sensorineural hearing loss in distal renal tubular acidosis, nephrocalcinosis and microcytic anemia].[远端肾小管酸中毒、肾钙质沉着症和小细胞贫血中的感音神经性听力损失]

HNO. 2000 Nov;48(11):846-8. doi: 10.1007/s001060050673.

引用本文的文献

Research progress on renal calculus associate with inborn error of metabolism.肾结石与先天性代谢缺陷相关的研究进展。

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Apr 25;52(2):169-177. doi: 10.3724/zdxbyxb-2022-0698.

Distal renal tubular acidosis: genetic causes and management.远端肾小管性酸中毒：遗传病因与治疗。

World J Pediatr. 2019 Oct;15(5):422-431. doi: 10.1007/s12519-019-00260-4. Epub 2019 May 11.

An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Answers.一名患有高钙血症和高氨血症的婴儿：是否为先天性代谢缺陷？答案。

Pediatr Nephrol. 2019 Feb;34(2):251-252. doi: 10.1007/s00467-018-4022-3. Epub 2018 Jul 19.

本文引用的文献

Genetic causes and mechanisms of distal renal tubular acidosis.远端肾小管性酸中毒的遗传病因和机制。

Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442.

Concomitant hypercalcemia and hyperammonemia associated with distal renal tubular acidosis.伴有高钙血症和高氨血症的远端肾小管酸中毒。

Pediatr Emerg Care. 2012 Mar;28(3):280-2. doi: 10.1097/PEC.0b013e31824957cb.

Functional significance of channels and transporters expressed in the inner ear and kidney.内耳和肾脏中表达的通道和转运体的功能意义。

Am J Physiol Cell Physiol. 2007 Oct;293(4):C1187-208. doi: 10.1152/ajpcell.00024.2007. Epub 2007 Aug 1.

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome.四名患有远端肾小管酸中毒和肾钙质沉着症、神经行为障碍、身材矮小及特殊面容的兄弟姐妹：一种可能的新常染色体隐性综合征。

Am J Med Genet A. 2007 Sep 1;143A(17):1951-7. doi: 10.1002/ajmg.a.31898.

Inherited renal acidoses.遗传性肾小管酸中毒

Physiology (Bethesda). 2007 Jun;22:202-11. doi: 10.1152/physiol.00044.2006.

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.常染色体隐性遗传性远端肾小管酸中毒的遗传学研究：与ATP6V0A4基因突变相关的早期感音神经性听力损失的证据。

J Am Soc Nephrol. 2006 May;17(5):1437-43. doi: 10.1681/ASN.2005121305. Epub 2006 Apr 12.

Hypercalcemia and distal renal tubular acidosis: an association not only in the newborn.高钙血症与远端肾小管酸中毒：不仅在新生儿中存在的一种关联。

Pediatr Nephrol. 2003 Aug;18(8):850. doi: 10.1007/s00467-003-1200-7. Epub 2003 Jun 18.

Distal renal tubular acidosis associated with hypercalcemia and nephrocalcinosis in an infant.一名婴儿出现与高钙血症和肾钙质沉着症相关的远端肾小管酸中毒。

Pediatr Nephrol. 2002 Nov;17(11):977-8. doi: 10.1007/s00467-002-0987-y.

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.常染色体隐性遗传性远端肾小管酸中毒中新型ATP6V1B1和ATP6V0A4突变及听力损失的新证据

J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796.

Hypercalcemia in neonatal distal renal tubular acidosis.新生儿远端肾小管酸中毒中的高钙血症

Pediatr Nephrol. 2000 Apr;14(4):354-5.

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Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers.

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