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Case report: a 58 -year -old man with small kidneys and elevated liver enzymes
BMC Nephrology ( IF 2.2 ) Pub Date : 2020-03-27 , DOI: 10.1186/s12882-020-01762-4
Jonathan Dash 1 , Patrick Saudan 2 , Ariane Paoloni-Giacobino 3 , Solange Moll 4 , Sophie de Seigneux 2
Affiliation  

The conjunction of hepatitis and renal disease can be seen in several clinical context, including karyomegalic nephritis (KIN). Karyomegalic nephritis (KIN) is a rare genetic disease, with less than 50 cases reported, which incidence is probably underestimated. We report here an unusual case presentation of KIN with obtention of several organ biopsies and a novel mutation leading to the disease. A 58 year old Caucasian without relevant family history presents with advanced chronic kidney disease, elevated liver enzymes and recurrent pulmonary infection. Familial history was negative. Renal biopsy revealed a chronic tubulo-intertsitial nephritis with enlarged and irregular hyperchromatic nuclei. Karyomegalic nephritis (KIN) was confirmed by genetic testing with a non-sense mutation and a deletion in the Fanconi anemia associated nuclease 1 (FAN1) gene. KIN is rare disease to be suspected in the presence of renal disease, biological hepatitis and recurrent pulmonary infections, even without a familial history. Diagnosis of this condition is crucial to perform family screening, avoid progression factors, and adapt post transplantation immunosuppression. Finally, avoiding familial heterozygote donors appears of major importance in this condition.

中文翻译:

病例报告:一名 58 岁男性,肾脏较小,肝酶升高

肝炎和肾脏疾病的结合可见于多种临床情况,包括巨核性肾炎 (KIN)。巨核性肾炎(KIN)是一种罕见的遗传性疾病,报告的病例不到 50 例,其发病率可能被低估了。我们在此报告了一个不寻常的 KIN 病例报告,同时获得了多个器官活检和导致该疾病的新突变。一名 58 岁的白人没有相关家族史,表现为晚期慢性肾病、肝酶升高和反复肺部感染。家族史为阴性。肾活检显示慢性肾小管间质性肾炎,伴有增大且不规则的染色质细胞核。巨核性肾炎 (KIN) 是通过基因检测证实的,其具有无义突变和范可尼贫血相关核酸酶 1 (FAN1) 基因的缺失。KIN 是一种罕见的疾病,即使没有家族病史,也可以在存在肾脏疾病、生物性肝炎和复发性肺部感染的情况下怀疑。这种情况的诊断对于进行家庭筛查、避免进展因素和适应移植后免疫抑制至关重要。最后,在这种情况下,避免家族杂合子供体显得尤为重要。并适应移植后免疫抑制。最后,避免家族杂合子供体在这种情况下显得尤为重要。并适应移植后免疫抑制。最后,避免家族杂合子供体在这种情况下显得尤为重要。
更新日期:2020-04-22
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