一例常染色体显性多囊肾病的自视问题。

Q2 Medicine
S Gualtieri, M A Sacco, P Tarzia, A P Tarallo, M Manno, I Aquila
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引用次数: 0

摘要

背景:多囊肾是一种囊性遗传病:多囊肾是一种囊性遗传病。多囊肾有两种形式:一种是常染色体显性遗传病,比较常见,多见于成人;另一种是常染色体隐性遗传病,比较少见,多见于儿童。85%的常染色体显性遗传病是由 PKD1 基因突变引起的,10%-15%的常染色体隐性遗传病是由 PKD2 基因突变引起的:我们报告了一例患有 ADPKD 的 56 岁女性患者,她接受了肾移植,因 Covid 19 病导致呼吸衰竭而住院治疗。她被插管、镇静和透析,接受抗生素、免疫抑制剂、利尿剂和肝素治疗。腹部 CT 扫描显示肝脏有多个大小不一的囊肿,肾脏也有多个囊肿。由于对治疗无反应,患者在 20 天后死亡。尸检显示腹部有乳白色腹水、大量胃出血、肠道真菌斑块、肝肾多囊肿。肾脏总长 27 厘米,总重量约 9 千克。肝脏实质呈空洞状,有多个囊肿。肾囊肿内有血性液体:该病例表明,对这些患者不仅要评估肾脏,还要评估肝脏,因为肝脏可能出现多发性囊肿,导致肝功能衰竭,影响病变的严重程度和死亡。这一数据对于在临床管理中强调对这些患者进行密切的肝功能监测,以及从生活中的预防角度进行监测具有重要意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Autoptic aspects in a case of autosomal dominant polycystic kidney disease.

Background: Polycystic kidney disease is a cystic genetic disease. There are two forms: an autosomal dominant one, more common and typical of adults, and an autosomal recessive one, rarer and present in childhood. The autosomal dominant form is caused by genetic mutations of the PKD1 gene in 85% of cases and of PKD2 in 10-15% of cases.

Case report: We reported a case of 56-year-old woman with ADPKD, who had a kidney transplant and who was hospitalized for respiratory failure from Covid 19 disease. She was intubated, sedated and dialyzed, treated with antibiotics, immunosuppressants, diuretics and heparin. CT scan of the abdomen showed multiple cysts of various sizes in the liver and multiple cysts in the kidneys. The patient died after 20 days because she was unresponsive to therapy. The autopsy showed milky ascitic fluid in the abdomen, massive gastric haemor-rhage, intestinal fungal plaques, hepatic and renal polycystosis. The kidneys measured a total of 27 cm with a total weight of about 9 kg. The liver parenchyma appeared cavernous with multiple cysts. The kidney cysts contained bloody liquid.

Conclusions: The case demonstrates how important it is in these subjects to evaluate not only the kidneys but also the liver which could present polycystosis and cause liver failure, affecting the severity of the pathology and death. This data is important to emphasize in the clinical management of these patients a close monitoring of liver function also from a preventative perspective in life.

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来源期刊
Clinica Terapeutica
Clinica Terapeutica PHARMACOLOGY & PHARMACY-
CiteScore
2.50
自引率
0.00%
发文量
124
审稿时长
6-12 weeks
期刊介绍: La Clinica Terapeutica è una rivista di Clinica e Terapia in Medicina e Chirurgia, fondata nel 1951 dal Prof. Mariano Messini (1901-1980), Direttore dell''Istituto di Idrologia Medica dell''Università di Roma “La Sapienza”. La rivista è pubblicata come “periodico bimestrale” dalla Società Editrice Universo, casa editrice fondata nel 1945 dal Comm. Luigi Pellino. La Clinica Terapeutica è indicizzata su MEDLINE, INDEX MEDICUS, EMBASE/Excerpta Medica.
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