Clinical characteristics and genetic analyses in a Chinese family affected by primary aldosteronism: a case report.

The clinical and aetiological characteristics of family-clustered primary aldosteronism (PA) are not fully understood and need further exploration. Our study reported a PA case with a family history accompanied by unusual concomitant disease and explored the genetic background of the affected family members, thus providing more evidence of the manifestation and pathogenesis of family-clustered PA. We studied a family with PA in which the proband and her maternal aunt were diagnosed with aldosterone-producing adenoma (APA) and primary adrenal hyperplasia (PAH), respectively. Apart from the diagnosis of APA, the proband also had a history of craniopharyngioma. Both patients achieved desirable blood pressure control and potassium levels after laparoscopic unilateral adrenalectomy. Multiple-gene panel analysis was applied in both resected adrenal lesions and peripheral blood of the proband to screen potential genetic variants. Then, the detected variant was verified by Sanger sequencing in her maternal aunt. No phenotype-related germline mutation was detected in the two affected patients. One somatic nonsense mutation (L168R) of KCNJ5 was detected in the DNA of resected APA from the proband, whereas her maternal aunt did not carry the same somatic mutation. Although no identical mutation was found in the two patients, it remains unknown whether certain unmeasured genetic or epigenetic factors are involved in the development of family-clustered PA. Further studies focused on PA cases with complex manifestations or with a family history will be needed to expand our knowledge of the pathogenesis of PA.