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家族性少年性肾单位肾痨(Familiar juvenile nephronophthisis,FJN),或儿童型肾脏髓质囊性病(Childhood Type renal medullary cystic disease,MCD),为遗传性进行性肾脏疾病。1945年首次由Smith等报告一例肾脏髓质囊性病(MCD),1951年Fanconi等报告了两个家族的7例患儿,命名为家族性少年性肾单位肾痨(FJN)。MCD多发生在成人,无肾外改变,为常染色体显性遗传;FJN多发生在儿童,为常染色体隐性遗传,除肾脏改变外,还可发生其它脏器的先天畸型或病变。上述两病的发病年龄及遗传形式均不相同,但临床表现及肾脏病变相似,故有人提议将两病统一命名为肾脏髓质囊性病,分为成人型(即MCD)及儿童型(即FJN)。我科于1982年2月收治一例FJN患儿,除肾脏改变外,尚并有先天性肠回转不全,较为罕见,兹报道如下。
Familiar juvenile nephronophthisis (FJN), or childhood type renal medullary cystic disease (MCD), is a hereditary progressive renal disease. A case of renal medullary cystic disease (MCD) was first reported in 1945 by Smith et al. In 1951, Fanconi et al. Reported 7 children of both families and named familial juvenile nephrotic nephropathy (FJN). MCD occurred in adults, no changes outside the kidney, autosomal dominant inheritance; FJN occurred in children, autosomal recessive, in addition to changes in the kidneys, but also may occur in other organs of the congenital malformations or lesions. The age and genetic form of the two diseases are not the same, but the clinical manifestations and renal lesions are similar, it was proposed that the two diseases be uniformly named cystic kidney disease, divided into adult (ie MCD) and children (ie FJN ). Our department in February 1982 admitted to a case of FJN children, in addition to changes in the kidneys, but also congenital intestinal incomplete, rare, it is reported below.