腺苷脱氨酶缺乏症的产前诊断

Prenatal diagnosis for adenosine deaminase deficiency.

作者信息

Ziegler J B, Van der Weyden M B, Lee C H, Daniel A

出版信息

J Med Genet. 1981 Apr;18(2):154-6. doi: 10.1136/jmg.18.2.154.

DOI:10.1136/jmg.18.2.154

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048693/

Abstract

Amniocentesis was performed in two successive pregnancies of the mother of a child with adenosine deaminase (ADA) deficient severe combined immunodeficiency. Assay of ADA in amniotic fluid fibroblasts showed the pregnancies to be normal and homozygous deficient, respectively. These findings were confirmed by the demonstration of a normal level of erythrocyte ADA in the cord blood of the healthy male born of the first pregnancy and by the demonstration of undetectable ADA activity in cord erythrocytes, spleen, liver, and kidney of the abortus of the second pregnancy. Prenatal diagnosis of ADA deficiency appears to be a reliable procedure.

摘要

对一名患有腺苷脱氨酶（ADA）缺乏症的重症联合免疫缺陷患儿的母亲进行了两次连续妊娠的羊水穿刺检查。对羊水成纤维细胞中的ADA进行检测，结果显示两次妊娠分别为正常和纯合缺陷型。通过检测第一次妊娠所生健康男婴脐带血中红细胞ADA水平正常，以及第二次妊娠流产胎儿的脐带红细胞、脾脏、肝脏和肾脏中检测不到ADA活性，证实了这些发现。ADA缺乏症的产前诊断似乎是一种可靠的方法。

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本文引用的文献

1

Severe combined immunodeficiency and adenosine deaminase deficiency: failure of enzyme replacement therapy.严重联合免疫缺陷与腺苷脱氨酶缺乏：酶替代疗法的失败

Arch Dis Child. 1980 Jun;55(6):452-7. doi: 10.1136/adc.55.6.452.

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Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.两名细胞免疫严重受损患者的腺苷脱氨酶缺乏症。

Lancet. 1972 Nov 18;2(7786):1067-9. doi: 10.1016/s0140-6736(72)92345-8.

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Heterogeneity for adenosine deaminase deficiency: Expression of the enzyme in cultured skin fibroblasts and amniotic fluid cells.腺苷脱氨酶缺乏症的异质性：该酶在培养的皮肤成纤维细胞和羊水细胞中的表达。

Am J Hum Genet. 1975 Jan;27(1):46-52.

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Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency.腺苷脱氨酶缺乏症和严重联合免疫缺陷的酶替代疗法。

N Engl J Med. 1976 Dec 9;295(24):1337-43. doi: 10.1056/NEJM197612092952402.

5

Fluctuating adenosine deaminase activities in cultured fibroblasts.培养的成纤维细胞中腺苷脱氨酶活性的波动

Biochem Med. 1978 Aug;20(1):54-62. doi: 10.1016/0006-2944(78)90049-2.

6

The effect of adenosine on mitogenesis of ADA-deficient lymphocytes.腺苷对腺苷脱氨酶缺乏淋巴细胞有丝分裂的影响。

Clin Immunol Immunopathol. 1978 Aug;10(4):446-58. doi: 10.1016/0090-1229(78)90157-5.

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A micromethod for determining adenosine deaminase and purine nucleoside phosphorylase activity in cells from human peripheral blood.一种测定人外周血细胞中腺苷脱氨酶和嘌呤核苷磷酸化酶活性的微量方法。

Clin Chim Acta. 1978 Jan 2;82(1-2):179-84. doi: 10.1016/0009-8981(78)90041-4.

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Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency.红细胞和血浆输注对腺苷脱氨酶缺乏症的疗效有限。

J Pediatr. 1978 Oct;93(4):597-603. doi: 10.1016/s0022-3476(78)80894-4.

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Family study on the kindred of an adenosine deaminase deficient child with severe combined immunodeficiency.腺苷脱氨酶缺陷所致重症联合免疫缺陷患儿家系的家系研究。

Aust N Z J Med. 1979 Oct;9(5):530-3. doi: 10.1111/j.1445-5994.1979.tb03389.x.

10

Prenatal diagnosis in New South Wales: comparative view of the first 1000 cases of chromosomal, sex-linked, and metabolic referrals.

Med J Aust. 1978 Oct 7;2(8):352-7. doi: 10.5694/j.1326-5377.1978.tb131598.x.

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