Clinical and genetic analysis of Dent disease in 4 Chinese children / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1261-1266, 2015.
Artículo
en Chino
| WPRIM
| ID: wpr-279929
ABSTRACT
<p><b>OBJECTIVE</b>To study the clinical features and gene mutations of 4 Chinese children with Dent disease.</p><p><b>METHODS</b>The clinical and laboratory data of 4 children with Dent disease were analyzed retrospectively. Genetic testing of the 4 cases was carried out.</p><p><b>RESULTS</b>All of 4 cases were boys. The first impression of Cases 1-3 was Fanconi syndrome. Proteinuria was presented as the first impression in Case 4. All 4 boys presented with low-molecular weight proteinuria (LMWP) and hypercalciuria, including 3 cases with hematuria, 1 case with kidney stones, 2 cases with nephrocalcinosis, 3 cases with hypophosphatemia, and 3 cases with rickets. Mutations of the CLCN5 gene were revealed in three patients (Cases 1, 2 and 4), including exon 6-7del, c.785_787de l(p.263del Leu) and c.1039 C>T (p.Arg347Term). The first two gene mutations had never reported before.</p><p><b>CONCLUSIONS</b>Urine protein electrophoresis should be carried out for patients with proteinuria. Dent disease should be taken into consideration when patients with Fanconi syndrome have hypercalciuria, nephrocalcinosis or kindey stones. Genetic analyses are needed for a definite diagnosis.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Canales de Cloruro
/
Monoéster Fosfórico Hidrolasas
/
Quimioterapia
/
Enfermedad de Dent
/
Genética
/
Mutación
Límite:
Niño
/
Child, preschool
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2015
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS