Swietliński Janusz, Maruniak-Chudek Iwona, Niemir Zofia I, Woźniak Aldona, Wilińska Maria, Zacharzewska Joanna
Department of Neonatal Intensive Care, Medical University of Silesia, Katowice, Poland.
Pediatr Nephrol. 2004 Mar;19(3):349-52. doi: 10.1007/s00467-003-1352-5. Epub 2004 Jan 9.
We present a female newborn with the nephrotic syndrome of intrauterine onset and a unique set of extrarenal abnormalities, as well as atypical renal lesions. The extrarenal anomalies comprised a soft tissue hemangioma in the frontotemporal region, unilateral microphthalmia (with persistent hyperplastic corpus vitreous and detachment of the retina), and glaucoma in the other eye. Immature glomeruli and/or glomeruli with large cellular crescents were found in renal biopsy specimens in the 3rd week of life. On autopsy, 7 weeks later, diffuse mesangial sclerosis (DMS) was the predominant type of glomerular lesion. In addition, dilations of tubules, forming microcysts, as well as clusters of infiltrating cells in the interstitium, were found both in renal biopsy and autopsy specimens. Although the symptoms observed in our patient did not match any reported in association with the known forms of the congenital nephrotic syndrome (CNS), the most probable diagnosis seemed to be CNS due to DMS of intrauterine onset, with superimposed drug-related tubulointerstitial nephritis.
我们报告了一名患有宫内发病的肾病综合征、一系列独特的肾外异常以及非典型肾脏病变的女婴。肾外异常包括额颞部软组织血管瘤、单侧小眼畸形（伴有持续性增生性玻璃体和视网膜脱离），以及另一只眼睛的青光眼。在出生后第3周的肾活检标本中发现了不成熟的肾小球和/或带有大细胞新月体的肾小球。7周后尸检时，弥漫性系膜硬化（DMS）是主要的肾小球病变类型。此外，在肾活检和尸检标本中均发现肾小管扩张形成微囊肿，以及间质中有浸润细胞簇。尽管我们患者所观察到的症状与已知形式的先天性肾病综合征（CNS）相关报道中的任何症状均不匹配，但最可能的诊断似乎是宫内发病的DMS所致的CNS，并叠加有药物相关的肾小管间质性肾炎。
