アルカプトン尿の証明に用いられる一般的なスクリーニングの方法には，室温放置法と10%水酸化ナトリウム添加法がある。これらの方法は，色調変化が不明瞭のため判定が困難な場合があった。尿が全体的に黒褐色調へ変化するまでに要する時間を検討したところ，次の結果が得られた。希釈尿や酸性尿を室温放置した場合は約1カ月以上，濃縮尿やアルカリ尿の場合は数日，水酸化ナトリウムを添加した場合では約4～5時間であった。以上より，黒褐色調の変化には相当の時間を要する場合があることが判明した。今回，尿の黒色調変化がホモゲンチジン酸の酸化に起因していることを利用して，4通りの方法を検討したところ，アルカプトン尿に水酸化ナトリウムと次亜塩素酸ナトリウムを混合添加した方法は，従来法に比べ，極めて迅速かつ明瞭に色調変化を確認できることが判明した。は，小児期では尿が黒変する以外に特に症状がないため放置され，生後数十年を経て，関節障害を特徴とする不可逆的な病変に伴う臨床症状が出現して初めて診断される場合が多い。本症は，発症早期に治療介入することで，病変の進行を阻止できる可能性が大きいことから，簡便かつ迅速な診断方法の確立が望まれる。今回の我々の方法は，の新規スクリーニング法として期待される。

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Alcaptonuria is rare metabolic disorder caused by deficiency of homogentisic acid enzyme. Ochronotic arthropathy is one of its late complications accompanied by pain and motion restriction of the spine, hips, knees, and shoulders.
We report a case of a 61-year-old man with ochronotic hip arthropathy. The patient's radiograph showed rapid collapse of the femoral head. Total hip arthroplasty was carried out and short-term results were good.

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成人女性に発症したに伴う股関節症の1例を経験した．症例は58歳女性．右股関節痛を主訴に受診した．単純X線像から，末期変形性股関節症と診断し，人工股関節置換術を行った．術中所見で黒色骨頭を認め，オクロノーシスが疑われた．尿の黒変と尿中ホモゲンチジン酸陽性からと診断した．腰椎単純X線像では椎間板の石灰化等の特徴的所見を認め，本症例を疑う重要な所見であった．現在，股関節痛なく歩容も改善し，経過良好であるが他臓器発症の可能性もあり，継続的な経過観察が必要である．

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A Fifty-year old man. He visited our clinic due to bilateral shoulder pain and left knee pain. Black-brown pigmentations were observed on the conjunctiva bulbi and the auricle. Plain X-ray films showed severe osteoarthritic changes of both shoulders. Ranges of motion of the shoulder were 100 degrees of flexion in the right shoulder, 80 degrees in the left shoulder, 15 degrees of external rotation in the right shoulder, 0 degree in the left, 4th lumbar vertebra of internal rotation in both shoulders. The preoperative JOA scores were 55 points in the right shoulder and 78.5 points in the left, respectively. Total shoulder arthroplasties were performed on bilateral shoulder. The JOA scores revealed 90.5 points in the right shoulder at 55 months after the surgery and 91 points in the left at 62 months after the surgery, respectively. Although the cause of this disease could not be cured, but the mid period clinical results of total shoulder arthroplasty are excellent.

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We reported a case of ochronotic arthropathy in the hip joint. The patient was 64-years-old woman who complained severe pain of the right hip and dyabasia. The radiograph of the right hip showed rapid collapse of the femoral head. Total hip arthroplasty was carried out by the diagnosis of rapidly destructive coxarthopathy. The articulr cartilage of the femoral head and synovium displayed black pigmentation. And the urine turned black after alkalization and homogentisic acid was detected. Therefore we diagnosed as arcaptonuria. 1 year after the total hip arthroplasty, she can walk with a cane without pain and the prosthesis has no loosening.
Alcaptonuria is rare hereditary metabolic disorder that results from a deficiency of the enzyme homogentisic acid oxidase. It is associated with various systemic abnormalities related to the deposition of homogentisic acid pigment in connective tissues. These pigmentary changes are termed ochronosis. Diagnosis is usually made by the triad of degenerative arthritis, ochronotic pigmentation, and change of urine color. Nonsteroidal anti-inflammatory drugs and physiotherapy reduce joint symptoms in the early stage of ochronotic arthritis. In the late stage of arthritis, arthroplasty is undergone. In our case total hip arthroplasty was carried out.

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 Alcaptonuria is a rare autosomal recessive metabolic disorder caused by the deficiency of an enzyme that results in the accumulation in tissues of homogentisic acid. This case report concerns a 76-year-old gentleman who developed severe pain during walking. Studies demonstrated typical ochronotic arthropathy of both hips. He underwent bilateral total hip arthroplasty, with good short-term results.

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【はじめに】人工股関節全置換術（以下THA）を契機に

と診断し得た1例を経験したので報告する．【症例】57歳男性．30歳代より腰痛が出現し，51歳より他院膠原病内科にて強直性脊椎炎として治療されていた．57歳から左股関節痛が出現し，当院紹介となった．身体所見として両眼球強膜や耳介に黒褐色変化を認め，単純X線像では骨頭圧壊を伴う変形性股関節症を認めた．THAを施行し，術中，骨頭に黒色色素沈着を認め臼蓋，滑膜にも同様の所見を認めた．を疑い尿中ホモゲンチジン酸定量検査により確定診断に至った．術後，経過良好でフォローアップ中である．【考察】中高年のは関節症状を主訴に病院受診し，関節症を契機として診断に至ることが多い．また，心・腎血管の石灰化により誘発される全身合併症の評価が重要である．多関節症の診察時には本疾患を鑑別に挙げ，他診療科と連携し治療戦略を立てる必要がある．

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はホモゲンチジン酸酸化酵素の欠損によりホモゲンチジン酸が体内に蓄積する先天性代謝障害であり，常染色体劣性遺伝を示す稀な疾患である．今回，性関節症に対して両人工膝関節全置換術（TKA），人工股関節全置換術（THA）を施行し良好な結果を得たため，若干の文献的考察を加えて報告する．【症例】62歳男性．乳幼児期から度々下着の変色の経験があったが放置していた．55歳時に近医での右肩手術後にと診断された．2004年に両膝関節痛を主訴に当院を初診され，両側とも関節症性変化を認めTKAを施行した．術中所見で関節軟骨，軟骨下皮質，半月板，滑膜に黒色の色素沈着を認めた．2013年に右THA，2016年に左THAを施行し，同様に骨頭，臼蓋軟骨の黒色変色を認めた．いずれも術後患者満足度は高く良好に経過した．

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Alkaptonuria is a rare inborn metabolic disorder in which ochronotic pigment is deposited in the connective tissue and cartilage. Ochronotic arthropathy is the consequence of longstanding alkaptonuria and leads to progressive joint disability. In this paper, we mainly report a case of a 48-year-old man with severe ochronotic arthropathy involving the shoulders.

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症例は70歳, 男性。幼小児期より下着に尿が付着すると黒変することに気がついていた。また, 同様の症状を呈したものが兄弟6人中4人に認められた。3年前に右変形性股関節症の手術の時にochronosisを指摘されていた。今回, 他疾患観察中, 胸部レントゲン写真にて異常を指摘され, 精査のため施行した気管支鏡検査にて気管気管支軟骨のochronosisを認めた。右上葉原発肺癌を疑い右上葉切除術を施行したところ肋軟骨, 気管気管支軟骨に黒色の色素沈着が認められた。本例は, に伴うochronosisの典型的所見と考えられた。は100万人に0.1人から10人と稀な疾患であり, 気管支鏡所見の報告も少なく本症例は興味ある1例と考えられた。

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Alcaptonuria is a rare hereditary metabolic disorder caused by deficiency of enzyme Homogentisic Acid. We hava experienced 2 surgical cases of ochronotic coxarthosis.
The first case was a 64-year-old woman who had typical ochronotic spondilitis and arthropathy. Coxarthrosis of the both sides was treated with T. H. R. in five years interval.
The second case was a 71-year-old man who had had a considerable pain in the left hip for four to five years. The radiological findings of the femoral head showed irregular density and collapse, but those of acetablum were normal. We carried out replacement with the fomoral head. endoprosthesis.

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Alkaptonuria is a congenital metabolic disease of autosomal recessive inheritance which causes homogentisic acid deposition in cartilages and connective tissues in defect of tyrosine and phenylalamine oxidase, leading to the onset of ocronotic arthropathy after middle age.
There have been reported a comparatively small number of cases of the present disease involved in the hip joint, and Hasegawa, Hokujo, Hotokebuchi, Ishikawa and others are its reporters in Japan. However, few cases are available, which present comparatively high and rapidadvancing degenerations as reported by R. Lagier, P. J. Stephen, A Peretz and others. This time we reported a case, which seemed to have been subjected to capital destruction in a comparatively rapid way, together with both radiological and histological findings. The present case, which seems to show 3-generation autosomal recessive inheritance, was affected by ocronotic arthropathy not only of the hip joint but also of the spine and the shoulder joint.

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Alcaptonuria is a rare inherited metabolic disorder characterized by the excretion of homogentisic acid in the urine and the deposition of that in the cartilage and other collagenous tissues.
This case report concerns a 65-year-old female who showed typical ochronotic arthropathy of both knees and spine. She had severe pain and limited motion in the knees.
Total knee replacement arthroplasties were done for both knees. Post operative clinical results have been excellent.

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A case of alcaptonuria was reported. This is a rare, hereditary disorder (occurrence rate 2-5/1,000,000) of amino acid metabolism, secondary to lack of homogentisic acid oxydase. As a consequence, there is an accumulation of homogentisic acid which is excreted in the urine and deposited in the connective tissues. This deposition results in ochronotic pigmentation and arthropathy, of which some characteristic radiological findings are demonstrated.
In this paper, we report one case of alcaptonuria who was diagnosed at 61 years of age. Pigmentation of the conjuctiva bulbi and urine was recognized. Osteoarthritic changes were observed in the bi-lateral shoulder and spinal column. Laboratory data showed homogentisic acid in urine. We performed total shoulder replacement, and the clinical results were excellent.

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This report documents insidious subcapital fracture of the femur with alcaptonuria in a 56-year-old-man. He had undergone total hip arthroplasty (THA) in the right side at the age of 53 years, and tenorraphy after Achilles tendon rupture in the right side at 56 years. On his first visit to our hospital, black pigmentation in the auricle and eye ball, and black urine were noted. He revisited our hospital for granual aggravation of left hip pain. Radiographs of the left hip showed displaced subcapital fracture of the femur. During THA, the femoral head and acetabulum were blackish. Histological examination demonstrated brownish pigmentation in the whole femoral head with scattering pieces of the cartilage. In addition to sharing force, accumulation of homogentisic acid in the bone and cartilage in the proximal femur were thought to have caused the subcapital fracture in this case.

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はまれな疾患であり，主な臨床像は尿の黒変，組織黒変（オクロノーシス），脊椎症，関節症（性関節症）である．初期には症状が軽度であるため進行して診断される症例が多く存在する．今回我々は膝関節鏡手術を契機にの診断に至った1例を経験したので報告する．症例は50歳男性　特に誘因なく右膝関節痛が出現し当科受診された．右膝関節の可動域は屈曲120度　伸展0度であった．日本整形外科学会膝関節機能判定基準は55点であった．画像所見：単純X線で右膝関節内側裂隙の狭小化を認めた．高位脛骨骨切術を目的として入院となり，関節鏡を行ったところ，黒色に色素沈着した滑膜組織の増生を認め，関節軟骨も黒色に変色していたため骨切りを中止とした．術後，尿検査でホモゲンチジン酸が陽性であったため，と診断した．

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