Inmaculada Tomás Carmona

Oral health status of patients with a mild decrease in glomerular filtration rate

OBJECTIVE The aim of this study was to evaluate the oral health status of patients with mildly decreased glomerular filtration rate (GFR). STUDY DESIGN The study group comprised 80 adults with GFR 60-89 mL/min. A group of 80 age- and gender-matched control subjects with GFR > or =90 mL/min were selected. Medical history, clinical examination, and biochemistry blood tests were performed in patients and control subjects. Renal function was estimated using the Modification of Diet in Renal Disease formula. A single dentist performed an intraoral examination of each patient and control subject. RESULTS No significant differences were detected between patients and controls in the number of decayed, missing, or filled teeth, supragingival plaque accumulation, calculus deposits, gingival inflammation, depth of periodontal pockets, clinical attachment loss, or dental mobility. CONCLUSION To our knowledge, this is the first study on dental health in the early stages of chronic renal failure. The results suggest that in patients with mildly decreased GFR, there are no alterations of the oral health status.

A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in OFD1 patients

BACKGROUND Oral-facial-digital syndrome (OFDS) type 1 (OFD1) is an X-linked dominant condition associated with embryonic male lethality. It almost always affects the oral cavity, face, and digits. It is considered to be a ciliopathy caused by mutations in the OFD1 gene. A variety of mutations have been described, and a genotype-phenotype correlation has been suggested. OBJECTIVE AND METHODS The proband was an 8-year-old Spanish girl with suspected OFD1. We extended the pedigree to three probands generations, performing a thorough physical examination and screening for OFD1 mutations in nine individuals. RESULTS The proband, her mother, and her sister showed oral findings consistent with OFD1. Ultrasound evaluation revealed the existence of renal cysts only in the probands mother. The rest of the family (all male) had no relevant morphological abnormalities. A single-base deletion in exon 16 of OFD1 (c.2183delG) leading to a frameshift was detected in the proband, her mother, and her sister. CONCLUSION Because all three women had a similar oral phenotype, this new mutation might be involved in the development of the OFD1 oral manifestations. In cases of OFDS, physical examination (including the oral cavity and renal function) and genetic screening of the probands and their relatives are mandatory.