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

Clara Bretaudeau,Sébastien Laurence,Marie-Hélène Diebold,Cédric Mauprivez,Francesca Siu Paredes,Benoît Lefèvre,Johan Sergheraert,Luciana Massa

doi:10.1051/mbcb/2018019

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.

Highlights

Cystinosis [OMIM 219800] is a genetic systemic disease caused by mutations of the cystin transport nephrotic syndrome gene, located on the 17p13 chromosome, encoding for cystinosin
Three clinical forms are described: (1) the infantile nephropathic form (>95% of cystinosis patients) is the most severe one with a Fanconi syndrom emerging during the first years of life, complicated by growth impairment by the age of 6 months and chronic renal insufficiency by the age of 6 years old; (2) the juvenile nephropathic form with a late onset during late childhood or adolescence and with mild manifestations; (3) the adult non-nephropathic form affecting only the cornea and rarely appearing before adulthood
Some authors have found polygonal crystals inside macrophages from bone marrow aspirate [8,9]. These crystals, which are pathognomonic for cystinosis, appear birefringent under polarized light

Summary

Introduction

Cystinosis [OMIM 219800] is a genetic systemic disease caused by mutations of the cystin transport nephrotic syndrome gene, located on the 17p13 chromosome, encoding for cystinosin. Cystinosis affects many organs and tissues, especially kidneys causing a chronic renal impairment, cornea and endocrine glands (with hypothyroidism, diabetes mellitus and hypogonadism). Three clinical forms are described: (1) the infantile nephropathic form (>95% of cystinosis patients) is the most severe one with a Fanconi syndrom emerging during the first years of life, complicated by growth impairment by the age of 6 months and chronic renal insufficiency by the age of 6 years old; (2) the juvenile nephropathic form with a late onset during late childhood or adolescence and with mild manifestations; (3) the adult non-nephropathic form affecting only the cornea and rarely appearing before adulthood.

Results

Conclusion