Dahlqvist S R, Lundström B, Holmgren G
Department of Rheumatology, University Hospital, Umeå, Sweden.
Ann Rheum Dis. 1989 Sep;48(9):760-4. doi: 10.1136/ard.48.9.760.
A three generation family from northern Sweden with both trichorhinophalangeal syndrome type I (TRP I) and systemic lupus erythematosus (SLE)-like syndrome with complement C4 homozygous null alleles is described. Five family members in three generations were affected by the TRP I syndrome, indicating autosomal dominant inheritance. Two members had clinical and laboratory signs of SLE and two other members SLE-like syndrome. All living family members in the first and second generation had homozygous C4A null alleles. In three of the adults the two syndromes occurred simultaneously, probably in this family by coincidence.
本文描述了一个来自瑞典北部的三代家族，该家族中既有I型毛发鼻指综合征（TRP I），又有系统性红斑狼疮（SLE）样综合征，且补体C4纯合无效等位基因。三代中的五名家族成员受TRP I综合征影响，提示为常染色体显性遗传。两名成员有SLE的临床和实验室体征，另外两名成员有SLE样综合征。第一代和第二代所有在世的家族成员都有纯合的C4A无效等位基因。在三名成年人中，这两种综合征同时出现，在这个家族中可能是巧合。
