Autosomal dominant disease combining osteolysis,
amyotrophy, and nephropathy.
Multicentric Osteolysis Nephropathy; Hereditary
Osteolysis of Carpal Bones with Nephropathy.
Approximately 100 cases have
been reported worldwide. Autosomal dominant inheritance has been described,
but many cases seem to be de novo mutations.
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.
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
Carnevale A, Canun S, Mendoza L, et al: Idiopathic multicentric
osteolysis with facial anomalies and nephropathy. Am J Med Genet
Costa MM, Santos H, Santos MJ, et al: Idiopathic multicentric osteolysis: A
rare disease mimicking juvenile chronic arthritis. Clin Rheumatol
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.