Una nueva mutación de la enfermedad de Dent en un niño de 11 años con nefrolitiasis y nefrocalcinosis / A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis

La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.

A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis. / Una nueva mutación de la enfermedad de Dent en un niño de 11 años con nefrolitiasis y nefrocalcinosis.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.

La enfermedad de Dent es una tubulopatía recesiva ligada al cromosoma X caracterizada por proteinuria de bajo peso molecular (bpm), hipercalciuria, nefrocalcinosis o nefrolitiasis, disfunción tubular proximal e insuficiencia renal en la adultez. Las mujeres son portadoras y, en general, padecen una forma leve de la enfermedad. La progresión hacia la insuficiencia renal en estadio terminal se da entre los 30 y los 50 años de edad en el 30-80% de los varones afectados. A falta de un tratamiento dirigido al defecto molecular, en la actualidad, los pacientes con enfermedad de Dent reciben tratamientos complementarios orientados a prevenir la nefrolitiasis y la nefrocalcinosis. El caso que presentamos es el de un niño de 11 años con nefrocalcinosis y nefrolitiasis, en quien se detectó una nueva mutación en el gen CLCN5.

Evaluación del comportamiento del sistema de ajuste locator asociado con una prótesis parcial removible, análisis de elementos finitos / Evaluation of the behavior system locator associated with a removable partial denture, finite element analysis

Objetivo: El propósito de esta investigación fue evaluar el comportamiento del sistema de ajuste locator asociado con una prótesis parcial removible (PPR) con extensión distal inferior por medio del método de análisis de elementos finitos (MEF). Materiales y Métodos: Se diseñó un modelo clase II Kennedy tridimensional utilizando un Software CAD de Solid Works 2010 (SolidWorks Corp., Concord, MA, USA), y posteriormente se procesó y analizó a través Software ANSYS versión 14. Se modelo un (1) implante Tapered Screw-Vent® (ref. TSVB10 Zimmer Dental-Carlsbad, CA, USA) de 10mm de longitud x 3.7mm de diámetro con una plataforma de 3.5mm, de hexágono interno con su respectivo tornillo de fijación; este se ubicó en el diente 37 como pilar posterior de una PPR, cuyo conector mayor fue una barra lingual colada (aleación cromo cobalto), con base combinada (metal/acrílico), con dientes a reemplazar (37, 36 y 35). Se evaluaron los esfuerzos von Mises en una carga 400N. Este análisis permitió valorar el comportamiento de las diferentes estructuras protésicas modeladas y los efectos generados en las interfases hueso-implante. Resultados: Se observaron diferencias entre los valores von Mises en todas las estructuras y ante las cargas no hubo deformaciones permanentes en ninguna de ellas. Estructuras como el hueso mostraron microdeformaciones en valores normales. Conclusiones: El comportamiento de la conexión PPR-implante, mostró una distribución de esfuerzos favorable al utilizar una PPR, sometiéndola a carga en dirección vertical.

Aim: The purpose of this research was to evaluate the behavior of the system locator settings associated with distal extension removable partial denture lower (PPR) by finite element analysis (FEA). Materials and Methods: A Class II Kennedy 3D model using a CAD software Solid Works 2010 (SolidWorks Corp., Concord, MA, USA), and subsequently processed and analyzed by ANSYS Software version Model 14. One (1) was designed implant Tapered Screw -Vent® (ref TSVB10 Zimmer Dental-Carlsbad,CA,USA.) length x 10mm diameter 3.7mm with a 3.5mm platform, internal hexagon with its respective screw fixation; this was located at the tooth 37 as a rear pillar of a PPR, whose major connector was a lingual bar casting (alloy cobalt chromium), based combined (metal/ acrylic) with teeth to replace (37, 36 and 35). Efforts were evaluated von Mises in a 400N load. This analysis allowed assessing the performance of various prosthetic structures modeled and generated effects on bone-implant interface. Results: Differences between the values von Mises in all structures and loads were observed before there was no permanent deformation in any of them. Structures such as bone showed in normal values microstrain Conclusions: The behavior of the PPRimplant connection, showed a favorable distribution efforts by using a PPR, subjecting it to load in the vertical direction

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. STUDY DESIGN: Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. We also analyzed 16 available patients' mothers and examined their pregnancy records. RESULTS: We detected 14 loss of function/deleterious mutations of CLCN5 in 15 boys and 2 mutations of OCRL1 in 4 boys. Of the patients, 16 of 19 had been wrongly diagnosed with other diseases and 11 of 19 had incorrect or unnecessary treatment. None of the patients, but 6 of 14 mothers, had nephrocalcinosis or nephrolithiasis at diagnosis. Of the patients, 8 of 14 with Dent disease 1 were large for gestational age (>90th percentile); 8 of 15 (53.3%) had rickets. We also present predicted structural changes for 4 mutant proteins. CONCLUSIONS: Pediatric Dent disease often is misdiagnosed; genetic testing achieves a correct diagnosis. Nephrocalcinosis or nephrolithiasis may not be sensitive diagnostic criteria. We identified 10 novel mutations in CLCN5 and OCRL1. The possibility that altered CLCN5 function could affect fetal growth and a possible link between a high rate of rickets and low calcium intake are discussed.