Burke J R, Inglis J A, Craswell P W, Mitchell K R, Emmerson B T
Clin Nephrol. 1982 Jul;18(1):1-8.
A large family with medullary cystic disease is described to show that juvenile nephronophthisis and medullary cystic disease should not be differentiated by age of onset and type of inheritance. The age at diagnosis of six family members with medullary cystic disease ranged from 4-32 years, and age at death from renal failure or commencement of dialysis from 7-48 years. A mother of two children with renal failure in early childhood has histological evidence of medullary cystic disease with normal renal function. We suggest that juvenile nephronophthisis and medullary cystic disease are the same conditions and that the disease be classified as medullary cystic disease, autosomal dominant or recessive form. When undertaking genetic counselling in the parents of children with medullary cystic disease, we suggest that renal biopsy may need to be considered even if their renal function is normal. Three patients presented with gout, and the possibility of an association with medullary cystic disease should be considered when more than one member of a family develops gout. Two patients died of status epilepticus, and epilepsy is probably an added association of medullary cystic disease.
本文描述了一个患有髓质囊性疾病的大家族，以表明青少年肾单位肾痨和髓质囊性疾病不应根据发病年龄和遗传类型进行区分。六名患有髓质囊性疾病的家庭成员的诊断年龄在4至32岁之间，死于肾衰竭或开始透析的年龄在7至48岁之间。一名有两个孩子在幼儿期出现肾衰竭的母亲，其组织学证据显示患有髓质囊性疾病但肾功能正常。我们认为青少年肾单位肾痨和髓质囊性疾病是同一病症，该疾病应归类为髓质囊性疾病，常染色体显性或隐性形式。在为患有髓质囊性疾病儿童的父母进行遗传咨询时，我们建议即使其肾功能正常，也可能需要考虑进行肾活检。三名患者出现痛风，当一个家族中有多名成员患痛风时，应考虑痛风与髓质囊性疾病相关的可能性。两名患者死于癫痫持续状态，癫痫可能是髓质囊性疾病的另一种关联病症。
