Nail-patella syndromeの一家系

One Pedigree of the Nail-Patella Syndrome : Case Report

　抄録：Nail-patella syndrome（NPS）は爪の欠損や低形成，膝蓋骨の形成不全，肘関節の変形，iliac hornを4大徴候とし，ABO血液型に連鎖する常染色体優性遺伝をとる疾患であり腎障害を高率に合併する．今回，われわれはNPSの一家系を経験したので報告する．症例は26歳，女性で右上腕骨骨折のため当科に入院した．両手母指の匙状爪，膝蓋骨の低形成と脱臼，肘関節変形，iliac hornを認め，4大徴候を認めたためNPSと診断した．そこで家族の同意を得て本家系の調査を行った．調査は8例中6例を直接診察し，2例は聞き取りにより行った．4大徴候として8例中7例に爪の異常が認められた．X線撮影は4例に施行でき，そのうち3例に膝蓋骨の形成不全，4例で肘関節の変形，3例にiliac hornがみられた．調査した8例の血液型はすべてA型であった．腎障害については父親が40歳頃より腎不全を生じ，現在透析を受けている．

　Nail-patella syndrome (NPS) is a hereditary disorder characterized by four major signs：fingernail dysplasia, hypoplastic or absent patellas, deformity of the elbow joint, and deformity of the iliac horn. NPS is transmitted by autosomal dominant inheritance, and the abnormalities are linked to the gene loci for ABO blood groups. Nephropathy is also considered an important component of NPS. We report a pedigree of the nail-patella syndrome. A 26-year-old woman was hospitalized for a right humerus fracture. Physical examination revealed bilatreal spoon nail of the thumb, patella dysplasia and dislocation, deformity of the elbow joint, and iliac horn, and we made a diagnosis of NPS. With the family's consent, we investigated the pedigree by examining six members directly and by surveying two members by telephone. Among the four major signs, the nail abnormalities were present in seven among the eight family members. X-rays were taken of four family members deformity of the elbow joint in three of them, patella dysplasia in four of them, and iliac horn deformity was in three of them. The blood type of all eight members was A. One members has been on hemodialysis for renal insufficiency sinse 40 years of age.