Kamyab S D, Behjatnia Y
Acta Med Iran. 1977;19(2):113-9.
Polycystic disease of the kidneys is a generalized lesion of characteristic clinico-pathological entity. It has two clincial forms: adult and infantile. The adult type is transmitted as a dominant disease where the latter is recessive trait. The infantile form had two pathological patterns. Form "A" in which the kidney is large and spongy, of normal shape and the cysts are numerous. Microscopically the connective tissue is not increased. The cysts are of equal size and shape. The nephrons are not reduced. In the form "B" the kidney may not have a normal shape and is not as large as the form "A". Microscopically the connective tissue is increased intensively. The cysts are of spherical shape and different sizes. The nephrons are reduced in number. We are reporting two cases of infantile polycystic kidneys in two siblings, one of whom represented form "A" and the other was similar to form "B". These two cases are interesting from the genetical point of view. We want to know whether the two forms are different manifestations of one disease with one genetic factor or they are two different diseases with two genetic factors? One can assume that the infantile polycystic kidney is a genetical disease with two different pathological manifestations or two different genetic disorders due to two different genetic factors.
多囊肾病是一种具有特征性临床病理实体的全身性病变。它有两种临床类型：成人型和婴儿型。成人型以显性疾病形式遗传，而婴儿型是隐性性状。婴儿型有两种病理模式。A型中，肾脏大且呈海绵状，形状正常，囊肿众多。显微镜下结缔组织未增多。囊肿大小和形状相同。肾单位未减少。B型中，肾脏形状可能不正常，且不如A型大。显微镜下结缔组织显著增多。囊肿呈球形，大小各异。肾单位数量减少。我们报告了两例患婴儿型多囊肾的兄弟姐妹，其中一例为A型，另一例类似B型。从遗传学角度来看，这两个病例很有意思。我们想知道这两种类型是一种疾病的不同表现形式，由一个遗传因素导致，还是两种不同的疾病，由两个遗传因素引起？可以推测，婴儿型多囊肾是一种具有两种不同病理表现的遗传疾病，或者是由于两个不同遗传因素导致的两种不同的遗传病症。
