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Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary adenosine 3',5'-monophosphate in response to antidiuretic hormone.

作者信息

Ohzeki T, Igarashi T, Okamoto A

出版信息

J Pediatr. 1984 Apr;104(4):593-5. doi: 10.1016/s0022-3476(84)80556-9.

DOI:10.1016/s0022-3476(84)80556-9
PMID:6323666
Abstract
摘要

相似文献

1
Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary adenosine 3',5'-monophosphate in response to antidiuretic hormone.
J Pediatr. 1984 Apr;104(4):593-5. doi: 10.1016/s0022-3476(84)80556-9.
2
Urinary adenosine 3',5'-monophosphate (cAMP) response to antidiuretic hormone in diabetes insipidus (DI): comparison between congenital nephrogenic DI type 1 and 2, and vasopressin sensitive DI.尿崩症（DI）中抗利尿激素对尿腺苷 3',5'-单磷酸（cAMP）的反应：先天性 1 型和 2 型肾性尿崩症与血管加压素敏感性尿崩症的比较
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A case of familial central diabetes insipidus: the response of urinary prostaglandins to 1-deamino-8-D-arginine vasopressin.
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4
Cyclic adenosine monophosphate excretion in urine of patients and carriers of congenital nephrogenic diabetes insipidus.先天性肾性尿崩症患者及携带者尿液中环状单磷酸腺苷的排泄情况。
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5
1-Deamino-8-D-arginine vasopressin and urine cyclic adenosine monophosphate excretion in diabetes insipidus.
Clin Pharmacol Ther. 1981 Jun;29(6):793-7. doi: 10.1038/clpt.1981.113.
6
Congenital nephrogenic diabetes insipidus in a baby girl.一名女婴患先天性肾性尿崩症。
Arch Dis Child. 1978 Nov;53(11):906-8. doi: 10.1136/adc.53.11.unknown.
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Basal and hormone-induced urinary cyclic AMP in children with renal disorders.
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Deficient renal cyclic adenosine 3'-5' monophosphate production in nephrogenic diabetes insipidus.
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9
Renal prostaglandins and water balance: studies in normal volunteer subjects and in patients with central diabetes insipidus.肾前列腺素与水平衡：对正常志愿者和中枢性尿崩症患者的研究
Clin Sci (Lond). 1981 Jul;61(1):61-7. doi: 10.1042/cs0610061.
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Urinary cyclic adenosine monophosphate excretion in diabetes insipidus of childhood. Effect of vasopressin and chlorpropamide.
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Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.一名患有AQP2基因新的大片段缺失的复合杂合子的严重先天性肾性尿崩症。病例报告。
Mol Genet Genomic Med. 2019 Apr;7(4):e00568. doi: 10.1002/mgg3.568. Epub 2019 Feb 19.
2
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.水通道蛋白-2：新的常染色体隐性遗传型肾性尿崩症致病突变及流行病学研究进展。
Clin Kidney J. 2012 Jun;5(3):195-202. doi: 10.1093/ckj/sfs029. Epub 2012 Mar 28.
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A novel mutation in the renal V2 receptor gene in a boy with trisomy 21.
Pediatr Nephrol. 2004 Jun;19(6):609-11. doi: 10.1007/s00467-004-1446-8. Epub 2004 Mar 30.
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Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.三个因水通道蛋白-2 C末端突变导致常染色体显性遗传性肾源性尿崩症的家族。
Am J Hum Genet. 2001 Oct;69(4):738-48. doi: 10.1086/323643. Epub 2001 Aug 30.
5
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.女性杂合子血管加压素2型受体突变所致肾性尿崩症的临床表型
Hum Genet. 1995 Jul;96(1):70-8. doi: 10.1007/BF00214189.
6
Discovery of aquaporins: a breakthrough in research on renal water transport.水通道蛋白的发现：肾脏水转运研究的一项突破。
Pediatr Nephrol. 1995 Apr;9(2):228-34. doi: 10.1007/BF00860757.
7
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.常染色体隐性遗传性肾源性尿崩症患者，其水通道蛋白2水通道基因发生纯合突变。
Am J Hum Genet. 1994 Oct;55(4):648-52.
8
Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.
J Clin Invest. 1994 Mar;93(3):1250-6. doi: 10.1172/JCI117079.