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Autosomal dominant disease combining osteolysis, amyotrophy, and nephropathy.

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Multicentric Osteolysis Nephropathy; Hereditary Osteolysis of Carpal Bones with Nephropathy.

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Approximately 100 cases have been reported worldwide. Autosomal dominant inheritance has been described, but many cases seem to be de novo mutations.

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Diagnosis can be made within the first year of life. However, clinical appearance is variable and involves the head (triangular face, exophthalmia, corneal clouding, micrognathia, retrognathia), the skeleton (onset with arthritis-like episodes affecting primarily the ankles [tarsal bones] and wrists [carpal bones], radiologically resulting in osteolytic changes with progressive deformities and later complete osteolysis and a variable degree of disability secondary to restricted joint mobility, with additional skeletal features of multifocal osteolyses, pes cavus, narrow diaphyses, metacarpal anomalies, and camptodactyly), and the muscles (amyotrophy, cachectic build, electromyographic abnormalities). Arterial hypertension and renal disease resulting from arteriolar intima proliferation and media hypertrophy. Focal glomerulosclerosis and proteinuria have been described. Renal insufficiency may start in the second or third decade of life. Death resulting from azotemia in these patients has occurred. One patient suffered from valvular pulmonary stenosis. Some patients are described as having a marfanoid habitus.

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To our knowledge, anesthesia has not been described in this condition. Renal function and blood pressure should be evaluated preoperatively. These patients most likely already are taking or should begin receiving antihypertensive medication. Facial features suggest airway management may be difficult. Avoid neuromuscular blockers and maintain spontaneous ventilation until the airway has been secured. Use of succinylcholine has not been evaluated, and the risk of malignant hyperthermia is unknown. Trigger agents should not be used or should be used with caution only in the presence of a myopathy. Abnormal response to neuromuscular blockers is possible. Renal failure may alter the metabolism and excretion of some anesthetic agents. Preoperative blood work should include a complete blood count, serum electrolytes, blood urea nitrogen, and creatinine. Avoid sudden and significant decreases in arterial blood pressure.

Carnevale A, Canun S, Mendoza L, et al: Idiopathic multicentric osteolysis with facial anomalies and nephropathy. Am J Med Genet 26:877, 1987.  [PubMed: 3591830]
Costa MM, Santos H, Santos MJ, et al: Idiopathic multicentric osteolysis: A rare disease mimicking juvenile chronic arthritis. Clin Rheumatol 15:97, 1996.  [PubMed: 8929789]
Shinohara O, Kubota C, Kimura M, et al: Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis. Am J Med Genet 15:482, 1991.

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