Síndrome amelogénesis imperfecta-nefrocalcinosis: revisión bibliográfica / Amelogenesis imperfect-nephrocalcinosis syndrome: literature review

El Síndrome Amelogénesis Imperfecta-Nefrocalcinosis es una rara enfermedad caracterizada por presentar Amelogénesis Imperfecta (AI) tipo hipoplásico en su mayoría asociado a una enfermedad renal llamada: Nefrocalcinosis.La AI es una alteración de la estructura y apariencia del esmalte con un origen genético que afecta en su mayoría a todos los dientes. Puede presentarse aislada o asociada a síndromes. Se distinguen 3 tipos (hipoplásico, hipocalcificado o hipomadurado) y entre ellos existen 15 subtipos, basado en las manifestaciones clínicas y el modo en que se transmite. Entre los genes descritos están: AMELX, ENAM, FAM83H, KLK4 y MMP20. La nefrocalcinosis (NC) es una enfermedad comúnmente caracterizada por la precipitación de sales de calcio en el tejido renal. En los pacientes con este síndrome, el daño en la función renal es variable y puede demorarse hasta la adultez a pesar de la presencia típica de hiperecogenicidad en la niñez. La relación entre los defectos de esmalte y la NC aun es incierta, pudiendo ser de tipo medular o cortical, siendo la primera la más común. El objetivo de esta revisión bibliográfica es detallar las características y tipos de ambas entidades, así como describir los casos publicados en la literatura. La mayoría de los reportes que se hacen cumplen un patrón autosómico recesivo, generalmente por matrimonios consanguíneos, donde se presenta la NC de tipo medular y la AI es de tipo hipoplásico en su mayoría, que se caracteriza por ser un defecto cuantitativo de esmalte, donde clínicamente se observa ausencia del mismo...

Amelogenesis Imperfecta -Nephrocalcinosis Syndrome is a rare disease characterized by the presence of Amelogenesis Imperfecta (AI) mostly hypoplastic type associated with a kidney disease called: Nephrocalcinosis. The AI is an alteration of the structure and appearance of the enanel with a genetic origin that mostly affects all the teeth. There may be isolated or associated with syndromes. There are 3 types (hypoplastic, hypocalcification or hypomineralised) and among them, there are 15 subtypes based on clinical manifestations and the mode how it is transmitted. Among the genes described are: AMELX, ENAM, FAM83H, KLK4 and MMP20. Nephrocalcinosis (NC) is a disease commonly characterized by the precipitation of calcium salts in the renal tissue. In patients with this syndrome, impaired renal function is variable and may be delayed until adulthood despite the presence of typical hyperechogenicity in childhood. The relationship between enamel defects and NC is still uncertain and may be cortical or medullary type, being the most common the first one. The aim of this review is to describe the characteristics and types of both entities, and to describe the cases published in the literature. Most reports have an autosomal recessive pattern, usually by consanguineous marriages, which it is presents mostly the NC medullary type and hypoplastic type of AI, which is characterized like a quantitative defect of enamel, where clinically observed absence of enamel...

Nephrocalcinosis induced by hyperoxaluria in rats

PURPOSE: To investigate nephrocalcinosis due to hyperoxaluria induced by two different inducing agents in rats. METHODS: Forty Sprague-Dawley male rats were randomly distributed into four groups: Group1 (Clinical control, n = 10); Group 2 (0.5% Ethylene Glycol + Vitamin D3, n = 10); Group 3 (1.25% Ethylene Glycol, n = 10); and Group 4 (5%Hydroxy L-proline, n = 10). Five animals from each group were euthanized after one week of follow-up (M1 Moment) and the remaining, after four weeks (M2 Moment). All animals underwent 24h urine dosages of calcium, oxalate, uric acid, citrate and serum creatinine. Histology and histomorphometric analyses were performed using Image J program in the hematoxylin-eosin stains. Calcium deposits in the renal parenchyma were quantified by PIXE technique (Proton Induced X-Ray Emission). RESULTS: 24h urinary parameters did not show any significant variations after 28 days of experiment except by hyperoxaluria that was significantly higher in Group 3. Histomorphometric analyses showed a significantly higher nephrocalcinosis in Group 2 (p<0.01). The calcium deposits in the renal parenchyma were 10 and 100 times higher in Group 2 in comparison to other groups in the M1 and M2 moments, respectively. CONCLUSION: The Group 2 (vitamin D3+Ethylene Glycol 0.5%) was the best model to induce nephrocalcinosis in rats after 28 days.