Abstract
BackgroundThe 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.Case presentationA 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.ConclusionsKIN 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.
Highlights
The conjunction of hepatitis and renal disease can be seen in several clinical context, including karyomegalic nephritis (KIN)
Karyomegalic nephritis (KIN) is rare disease to be suspected in the presence of renal disease, biological hepatitis and recurrent pulmonary infections, even without a familial history
Specificity of the case We present here a case of KIN nephritis with recessive inheritance and undescribed mutations
Summary
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. Avoiding familial heterozygote donors appears of major importance in this condition. Specificity of the case We present here a case of KIN nephritis with recessive inheritance and undescribed mutations. The other specificity of the case relies on the obtention of biopsies from several organs in the same patients, allowing to compare renal and extrarenal lesions
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