Abderhalden-Kaufmann-Lignac syndrome

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Autosomal recessive syndrome of disturbance of amino acid transport characterized by deposition of cystine crystals in numerous tissues of the body, particularly evident in the conjunctiva and cornea.

Description

Autosomal recessive syndrome of disturbance of amino acid transport characterized by deposition of cystine crystals in numerous tissues of the body, particularly evident in the conjunctiva and cornea. Children in whom cystinosis is found are subnormal in development, with dwarfing, rickets, and osteoporosis. Renal tubular disease, aminoaciduria, glycosuria, and hypokalemia are usually present. Cystinosis occurs primarily in children; only two cases are believed to have been observed in adults. The syndrome has been described in siblings but not in different generations. It is of a simple Mendelian character.

Bibliography

  • E. Abderhalden:
    Familiäre Cystindiathese. Hoppe-Seylers Zeitschrift für physiologische Chemie, Strassburg, 1903, 38: 557-561.
  • G. O. Lignac:
    Über Störing des Cystinstoffwechsels bei Kindern.
    Deutsches Archiv für klinische Medizin, Leipzig, 1924, 145: 139-150.
  • G. de Toni:
    Remarks on the relations between rickets (renal dwarfism) and renal diabetes.
    Acta pædiatrica, Uppsala, 1933, 16: 479-484.
  • R. Debré, et al:
    Rachitisme tardif coexistant avec une néphrite chronique et une glycosurie.
    Archives de médecine des enfants, Paris, 1934, 37: 597-606.
  • G. Fanconi:
    Der frühinfantile nephrotisch-glycosurische Zwergwuchs mit hypophosphatämischer Rachitis. Jahrbuch für Kinderheilkunde, Berlin, 1936, 147: 299-318.

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