Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.
Pediatr Int
; 64(1): e14948, 2022 Jan.
Article
en En
| MEDLINE
| ID: mdl-34380181
ABSTRACT
BACKGROUND:
Familial renal glycosuria (FRG) is a rare renal tubular disorder characterized by a variable loss of glucose in the urine despite normal blood glucose levels, which is seen in a condition in which other tubular functions are preserved. In this study, the molecular and clinical characteristics of pediatric FRG cases due to SLC5A2 gene variants were defined.METHODS:
Demographic features, diagnostic tests, and molecular analyses of patients with a diagnosis of FRG cases due to SLC5A2 gene variants were retrospectively analyzed between 2016 and 2019.RESULTS:
The data of 16 patients who were clinically and genetically diagnosed with FRG in a 4-year period were analyzed. Seven (44%) of the cases were female and 9 (56%) were male. The median age at diagnosis was 6 years old (2 months old to 17 years old). Neuromotor development was found to be appropriate for the age in each case. Systemic blood pressure was evaluated as normal. A homozygous pathogenic variant in the SLC5A2 gene was detected in 14 patients in the genetic examination. A heterozygous variant was detected in one patient. In the other patient, two different heterozygous pathological variants were found in the SLC5A2 gene.CONCLUSIONS:
It was revealed that growth and development were normal in children with glucosuria due to variations in the SCL5A2 gene. Renal function tests and urinary amino acid excretion were also within normal values. In our case series, the most common genetic variation in the SCL5A2 gene was the A219T (c.655G>A) variant.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Glucosuria Renal
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
Límite:
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Int
Asunto de la revista:
PEDIATRIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Turquía