Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome.
OBJECTIVE
Amelogenesis imperfecta (AI) is due to many inherited defects of enamel formation that affect the quantity and quality of enamel, leading to delay in tooth eruption and cosmetic consequences. AI has been described in association with nephrocalcinosis, which is called the enamel-renal syndrome. The aim of this case report is to describe typical features of AI in 2 patients with Bartter's syndrome (BS) for the first time.


METHODS
-Eight patients with confirmed BS were systematically screened for dental abnormalities as part of protocol. Those with suggestive clinical features of AI were submitted to panoramic X-ray and decayed teeth were analyzed by scanning electron microscopy.


RESULTS
Typical features of AI were detected in 2 girls with BS. These 2 patients showed nephrocalcinosis, and diagnosis and adequate clinical control were delayed. Genetic analysis detected the mutation responsible for BS in 1 of these patients. In this case, BS was due to a homozygous mutation of exon 5 of the KCNJ1 gene resulting in a substitution of valine for alanine at the codon 214 (A214V).


CONCLUSIONS
The finding of typical features of AI in BS might constitute preliminary evidence that abnormalities of the biomineralization process found in patients with renal tubular disorders might also affect calcium deposition in dental tissues.
Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Brazil.
Hercílio
H
Martelli-Júnior
Shirlene Pimentel
SP
Ferreira
Paula Cristina B
PC
Pereira
Ricardo D
RD
Coletta
Sibele Nascimento
SN
de Aquino
Débora Marques
DM
Miranda
Ana Cristina
AC
Simões E Silva
Amelogenesis imperfecta; Bartter's syndrome; Enamel; Genetics