Siniachenko O V, Oberemchenko Ia V, Diadyk A I, Vasilenko I V
Ter Arkh. 1986;58(1):101-5.
The authors observed 10 patients from 4 families with hereditarily determined gout and detected some specific features in its course. The familial disease was sex-unrelated, its first signs manifested themselves early acquiring a subsequent severe course; purine metabolic derangement was of a metabolic type, a urolithic form of nephropathy was seldom observed. A morphological picture was characterized by a glomerular lesion looking like focal segmental mesangiocapillary or mesangioproliferative glomerulonephritis with noticeable changes in the tubules, stroma and vessels causing early renal insufficiency. Pathogenetic therapy with uricodepressants made it possible to improve the course of nephropathy. The authors described a pedigree of 3 generations of a family in which gout developed in its 10 out of 17 members, in 6 with chronic renal insufficiency.
作者观察了来自4个家族的10例遗传性痛风患者，并在其病程中发现了一些特定特征。这种家族性疾病与性别无关，其最初症状出现较早，随后病情严重；嘌呤代谢紊乱属于代谢型，很少观察到尿石症型肾病。形态学表现为肾小球病变，类似局灶节段性系膜毛细血管性或系膜增生性肾小球肾炎，肾小管、间质和血管有明显变化，导致早期肾功能不全。使用尿酸抑制剂进行病因治疗有可能改善肾病病程。作者描述了一个三代家族的谱系，该家族17名成员中有10人患痛风，其中6人患有慢性肾功能不全。
