Maruyama Hidehiko, Shinno Yoko, Fujiwara Kaori, Nakamura Akie, Tajima Toshihiro, Nakamura Makoto, Kageyama Misao
Department of Neonatology, National Hospital Organization, Okayama Medical Center, Okayama, Japan.
AJP Rep. 2013 May;3(1):21-4. doi: 10.1055/s-0032-1329682. Epub 2012 Dec 3.
Neonatal Bartter syndrome (NBS) is an inherited renal tubular disorder associated with hypokalemic alkalosis. Here we report a case of genetically diagnosed NBS. Polyhydramnios was noted at 26 weeks. A boy was born at 31 weeks and 1 day, weighed 1344 g, and had an Apgar score of 8/8. We initiated indomethacin (IND) at a dose of 0.2 mg/kg/d on day 31, and increased it to approximately 3 mg/kg/d. However, his urinary calcium (Ca) levels remained unchanged. At 4 months of age, nephrocalcinosis was detected by ultrasound. The placenta weighed 700 g (+2.7 standard deviations). Although the proportion of terminal villi was consistent with the gestational age, many of them exhibited poorly dilated capillaries. Hemosiderin pigment was seen throughout the amniochorionic connective tissue and along about 50% of the trophoblast basement membrane (TBM). Von Kossa stain revealed the corresponding area of mineralization along the TBM. In our opinion, urinary Ca levels were high and did not change after IND initiation, indicating that nephrocalcinosis may be inevitable. Enhanced inflow of maternal plasma through the basement membrane would cause Ca deposition, given that the same finding was obtained in the case with polyhydramnios. The same mechanism would also explain the hemosiderin pigment distribution.
新生儿巴特综合征（NBS）是一种与低钾性碱中毒相关的遗传性肾小管疾病。在此，我们报告一例经基因诊断的NBS病例。孕26周时发现羊水过多。一名男婴于31周零1天出生，体重1344克，阿氏评分8/8。出生后第31天，我们开始使用吲哚美辛（IND），剂量为0.2毫克/千克/天，并将其增加至约3毫克/千克/天。然而，他的尿钙水平保持不变。4个月大时，超声检查发现肾钙质沉着症。胎盘重700克（高于标准差2.7）。虽然终末绒毛的比例与孕周相符，但其中许多绒毛的毛细血管扩张不良。在羊膜绒毛膜结缔组织中以及约50%的滋养层基底膜（TBM）上均可见含铁血黄素色素。冯·科萨染色显示沿TBM有相应的矿化区域。我们认为，尿钙水平较高且在开始使用IND后未发生变化，这表明肾钙质沉着症可能不可避免。鉴于羊水过多的病例也有同样的发现，母体血浆通过基底膜的流入增加会导致钙沉积。同样的机制也可以解释含铁血黄素色素的分布情况。
