Pregnancy in autosomal recessive polycystic kidney disease.
Pregnancy in autosomal recessive polycystic kidney disease.
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DOI：
10.1007/s00404-014-3445-8
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发表时间：
2015-03
影响因子：
2.6
通讯作者：
Gunay-Aygun M
中科院分区：
文献类型：
--
作者：
Banks N;Bryant J;Fischer R;Huizing M;Gahl WA;Gunay-Aygun M
常染色体隐性多囊肾病 (ARPKD) 是最常见的儿童期发病的纤毛病。随着治疗方法的改进，越来越多的女性达到了生育年龄，但人们对 ARPKD 和怀孕知之甚少。在我们正在进行的 ARPKD 和其他纤毛病研究中，识别并系统评估了 12 名 18 岁以上的女性。六人有孩子；其中四名怀孕并分娩，一名使用辅助生殖技术并请代孕妈妈怀孕，一名收养。我们报告了四名活产孕妇和两名选择其他家庭建设方案的妇女的结果。患者 1 在 6 个月时被诊断出来，21 岁时因妊娠并发肾功能短暂恶化（肌酐从 1.15 mg/dL 增加至 1.78 mg/dL）。患者二在 7 岁时被诊断出患有 ARPKD，并在 23 岁时进行了一次无并发症的妊娠。患者三在 23 岁时（即一次无并发症的妊娠完成三个月后）偶然被诊断出患有 ARPKD。第四名患者在 33 岁时进行了一次无并发症的妊娠，并在 46 岁时被诊断出患有 ARPKD。患有 ARPKD 的女性在做出生殖决定时很大程度上缺乏其他 ARPKD 患者怀孕的信息。我们报告了四例妊娠和 ARPKD 病例，以扩大当前知识并鼓励进一步研究。
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is the most common childhood-onset ciliopathy. As treatments improve, more women are reaching reproductive age, but little is known about ARPKD and pregnancy. In our ongoing study on ARPKD and other ciliopathies, 12 females over 18 years of age were identified and systematically evaluated. Six had children; four carried pregnancies and delivered, one used Assisted Reproductive Technology and had a surrogate carry the pregnancy, and one adopted. We report the outcomes of four pregnancies with live birth deliveries and two women who chose alternate family building options. Patient one was diagnosed at six months, and at age 21 had a pregnancy complicated by transient worsening of renal function (creatinine increase from 1.15 to 1.78 mg/dL). Patient two was diagnosed with ARPKD at age seven and had an uncomplicated pregnancy at age 23. Patient three was diagnosed incidentally with ARPKD at age 23, three months after completion of an uncomplicated pregnancy. Patient four who had an uncomplicated pregnancy at age 33 was diagnosed with ARPKD at age 46. . Women with ARPKD face reproductive decisions largely bereft of information about the pregnancies of other ARPKD patients. We report four cases of pregnancy and ARPKD to expand current knowledge and encourage further research.
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DOI：
10.1111/j.1447-0756.2008.00891.x
发表时间：
2008-08-01
影响因子：
1.6
作者：
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发表时间：
2008-10-01
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DOI：
10.1002/ajmg.c.30225
发表时间：
2009-11-15
影响因子：
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作者：
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通讯作者：
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