Carter Sean, Dixit Abhijit, Lunn Andrew, Deorukhkar Anjum, Christian Martin
School of Medicine, University of Nottingham, Nottingham, UK.
Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Derby Road, Nottingham, NG7 2UH, UK.
Pediatr Nephrol. 2016 Dec;31(12):2257. doi: 10.1007/s00467-016-3331-7. Epub 2016 Feb 18.
A case is presented of a neonate born at 32 weeks of gestation with intra-uterine growth retardation. The renal scan performed at 31 weeks showed oligohydramnios but normal kidneys. The neonate was oliguric from birth and required early peritoneal dialysis. Her urine showed heavy proteinuria, and the plasma albumin was very low. Post-natal ultrasonography showed large bright kidneys with reduced corticomedullary differentiation but no dysplastia; arterial and venous flow was normal on Doppler ultrasound. The quiz discusses the differential diagnosis with particular reference to whether this picture represents acute kidney injury with expected improvement or chronic kidney disease. Further questions discuss mechanisms of renal failure in this situation. Finally, with reference to previous case reports and series, a correlation between a specific mutation and this severe phenotype is proposed.
本文报告一例孕32周出生、患有宫内生长迟缓的新生儿。孕31周时进行的肾脏扫描显示羊水过少，但肾脏正常。该新生儿自出生起就少尿，需要早期进行腹膜透析。她的尿液显示大量蛋白尿，血浆白蛋白非常低。产后超声检查显示肾脏大且回声增强，肾皮质髓质分化减弱，但无发育异常；多普勒超声显示动静脉血流正常。该病例讨论了鉴别诊断，特别提及这种情况是代表预期会改善的急性肾损伤还是慢性肾病。进一步的问题讨论了这种情况下肾衰竭的机制。最后，参考既往病例报告和系列研究，提出了一种特定突变与这种严重表型之间的关联。
