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以VACTERL综合征中显著软骨化生病变为特征的肾发育不良：一例报告

Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.

作者信息

Nakaya Takeo, Hyuga Taiju, Tanaka Yukichi, Kawai Shina, Nakai Hideo, Niki Toshiro, Tanaka Akira

机构信息

Department of Pathology, Jichi Medical University Department of Pediatric Urology, Children's Medical Center Tochigi and Jichi Medical University, Shimotsuke, Tochigi Department of Pathology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.

出版信息

Medicine (Baltimore). 2017 Apr;96(15):e6499. doi: 10.1097/MD.0000000000006499.

DOI:10.1097/MD.0000000000006499
PMID:28403078
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5403075/
Abstract

BACKGROUND

Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association.

CASE PRESENTATION

We observed the following multiple developmental malformations in a 108-day-old male infant during a nephrectomy: a nonfunctioning right kidney with VUR, hemidiaphragmatic eventration, a ventricular septal defect (VSD) with tetralogy of Fallot in the heart, cryptorchidism, and hyperdactylia. These developmental anomalies satisfied the diagnostic criteria for VACTERL association. A surgical specimen of the right nonfunctioning kidney revealed prominent cartilaginous metaplasia in the renal dysplasia with VUR. The densities of the ectopic cartilaginous lesions in this nonfunctioning kidney were extraordinarily high compared with other renal dysplasia cases. Giemsa banding of his genome produced normal results. The patient has not undergone further detailed genomic investigation.

CONCLUSION

This case might be a novel type of VACTERL association, that is, renal dysplasia combined with prominent cartilaginous metaplasia, tetralogy of Fallot and VSD of the heart, hemidiaphragmatic eventration, and hyperdactylia.

摘要

背景

肾发育异常是儿童终末期肾病的最重要原因。发育异常的组织病理学特征是原始肾小管伴纤维肌肉结构紊乱。肾发育异常常包括化生软骨。肾发育异常中的化生软骨被解释为继发于膀胱输尿管反流（VUR）。此外，在肾发育异常相关综合征中观察到肾发育异常，这些综合征是多种发育畸形的组合，包括VACTERL综合征。

病例介绍

在对一名108日龄男婴进行肾切除术期间，我们观察到以下多种发育畸形：一个无功能的右肾伴VUR、半侧膈肌膨出、心脏室间隔缺损（VSD）合并法洛四联症、隐睾症和多指畸形。这些发育异常符合VACTERL综合征的诊断标准。右侧无功能肾的手术标本显示，在伴有VUR的肾发育异常中存在明显的软骨化生。与其他肾发育异常病例相比，这个无功能肾中异位软骨病变的密度极高。对其基因组进行吉姆萨显带分析结果正常。该患者尚未接受进一步的详细基因组研究。

结论

该病例可能是一种新型的VACTERL综合征，即肾发育异常合并明显的软骨化生、法洛四联症和心脏VSD、半侧膈肌膨出和多指畸形。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/4c3868795ebc/medi-96-e6499-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/3e1843c4c9dc/medi-96-e6499-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/0c303862faaa/medi-96-e6499-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/668c84ca4ac6/medi-96-e6499-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/4c3868795ebc/medi-96-e6499-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/3e1843c4c9dc/medi-96-e6499-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/0c303862faaa/medi-96-e6499-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/668c84ca4ac6/medi-96-e6499-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cc8/5403075/4c3868795ebc/medi-96-e6499-g004.jpg

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