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Very rare genetic disorder diagnosed in infancy and characterized by deafness (adolescence), nonpruritic urticaria, and renal amyloidosis type AA. Other clinical features include arthralgias and/or conjunctivitis.

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Urticaria-Deafness-Amyloidosis Syndrome.

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Fewer than 150 cases reported since the first description in 1962. Autosomal dominant with variable penetrance.

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Most patients present with some or all of the following manifestations: chronic urticaria, sensorineural deafness, periodic arthritis, “aguey bouts.” “Aguey bouts” are composed of (a) chills, rigors, and malaise; (b) aching pains in distal limbs and large joints; and (c) urticarial rash over the whole body. Associated findings may include renal amyloidosis (and renal insufficiency), aminoaciduria, conjunctivitis, abdominal pain, angioedema, meningitis, and aphthous ulceration of the buccal mucosa. Hyperglycinuria, and renal stones, as well as renal amyloidosis, have been reported, but neither is required for the diagnosis.

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Evaluation of renal function if indicated. Because attacks may be induced by cold, hypothermia should be prevented. Renal function must be considered in the selection of anesthetic agents.

Berthelot J, Maugars Y, Robillard N, et al: Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four-generation family. Am J Med Genet 53:72, 1994.  [PubMed: 7802040]
Muckle TJ: The “Muckle-Wells” syndrome. Br J Dermatol 87:87, 1979.

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