Oral and craniofacial findings in Fabry's disease: a report of 13 patients.

OBJECTIVE: Fabry's disease is an X-linked metabolic disease caused by the deficiency of the lysosomal enzyme alpha-galactosidase A. The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations. STUDY DESIGN: This is a case series describing oral and craniofacial findings of 13 male patients diagnosed with Fabry's disease. Data were collected by means of a standardized questionnaire, clinical examination, panoramic and cephalometric radiographs, and magnetic resonance imaging. RESULTS: A variety of abnormalities are described, including an increased prevalence of cysts/pseudocysts of the maxillary sinuses (PCMs) and the presence of maxillary prognathism. CONCLUSION: Given the high prevalence of oral and dental abnormalities, we recommend a thorough stomatologic evaluation of these patients.

Clinical course of primary Sjögren's syndrome: salivary, oral, and serologic aspects.

OBJECTIVE: To assess changes in symptoms and signs, salivary function, serologic activity, and disease progression in primary Sjogren's syndrome (SS). METHODS: Treatment records on 80 patients seen in clinic and diagnosed with primary SS by defined criteria were reviewed. Forty-nine patients were evaluated at least twice a minimum of 5 years (mean 7 years) apart. Salivary flow rates from each of the major salivary glands and laboratory values were obtained. A structured interview with questions pertaining to signs and symptoms of primary SS was given and a physical examination was performed. An additional 26 patients completed a followup questionnaire by mail and their current medical records were obtained for review. For this group, the followup period was a mean of 10 years after their initial evaluation. Five patients were deceased. RESULTS: The patients seen twice showed relative stability in their salivary measurements and in their serologic values. The subjective sicca symptoms of oral and ocular dryness among the 75 surviving patients remained prominent. Very few individuals developed another connective tissue disease, therefore evolving into secondary SS. Among the 80 patients, 6 cases of B cell lymphoma were recognized during the followup period. CONCLUSION: Although it is not a benign condition, primary SS is a very slowly progressing disease without rapid deterioration in salivary function, systemic markers of disease activity, or dramatic changes in symptoms, with the exception of a high incidence of lymphoma.

The mouth is a gateway to the body: gene therapy in 21st-century dental practice.

Gene therapy may become an integral tool in dental practice early in the 21st century. It and other biological therapies are expected to be applied to oral diseases and disorders during the midpractice lifetime of today's dental students. If the applications of oral gene transfer are expanded to systemic diseases, oral health care providers in the future could routinely be "gene therapists" with therapeutic targets well outside the oral cavity.

Increased fluid secretion after adenoviral-mediated transfer of the aquaporin-1 cDNA to irradiated rat salivary glands.

A replication-deficient, recombinant adenovirus encoding human aquaporin-1 (hAQP1), the archetypal water channel, was constructed. This virus, AdhAQP1, directed hAQP1 expression in several epithelial cell lines in vitro. In polarized MDCK cell monolayers, hAQP1 was localized in the apical and basolateral plasma membranes. Fluid movement across monolayers infected by AdhAQP1 in response to an osmotic gradient was approximately 4-fold that seen with uninfected monolayers or monolayers infected by a control virus. When AdhAQP1 was administered to rat submandibular glands by retrograde ductal instillation, significant hAQP1 expression was observed by Western blot analysis in crude plasma membranes and by immunohistochemical staining in both acinar and ductal cells. Three or four months after exposure to a single radiation dose (17.5 or 21 Gy, respectively), AdhAQP1 administration to rat submandibular glands led to a two- to threefold increase in salivary secretion compared with secretion from glands administered a control virus. These results suggest that hAQP1 gene transfer may have potential as an unique approach for the treatment of postradiation salivary hypofunction.