Dental implant placement in a patient with cystinosis. A case report

Abstract

Introduction: Cystinosis is a rare genetic disease due to a defective transport of cystine out of the lysosomes, caused by a mutation of the gene encoding for the lysosomal carrier protein, the cystinosin. Cystine accumulation results in the formation of intracellular cystine cristals, that causes tissular and multi-organic lesions (kidney, eyes, endocrine glands). Observation: We report a rare case of a patient affected by infantile nephropathic cystinosis, who consulted for an implant placement in a single-tooth gap. Discussion: Accumulation of cystine leads to tissue damage, primarily in the kidney, the liver and the cornea, but other organs, such as the mouth, teeth and jaws may be also involved. The article aimed to present oral manifestations associated with this storage disease and to discuss how oral surgeon can evaluate and manage these patients despite the lack of a standardized protocol.

Oral alterations in patients with cystinosis

“…Oral alterations in individuals with NC may be associated with the presence of comorbidities. Enamel hypoplasia, taurodontism, delayed tooth eruption, delayed tooth development, reduced airway space, soft tissue changes, tooth agenesis, and difficulty swallowing have already been described in patients with NC (Table ) . Without appropriate treatment, children with cystinosis can develop kidney failure.…”

“…Enamel hypoplasia, taurodontism, delayed tooth eruption, delayed tooth development, reduced airway space, soft tissue changes, tooth agenesis, and difficulty swallowing have already been described in patients with NC (Table 1). [10][11][12][13][14][15][16] Without appropriate treatment, children with cystinosis can develop kidney failure. The pathophysiological alterations associated with kidney failure and its treatment can affect the development and the mineralization of teeth, such as enamel hypoplasia and has been associated with the production of poorly formed enamel as a result of ameloblast disruption.…”