Clinical features and TTC21B genotype of a child with nephronophthisis type 12 / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 580-584, 2019.
Article
Dans Chinois
| WPRIM
| ID: wpr-774030
ABSTRACT
Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Maladies kystiques rénales
/
Génétique
/
Génotype
/
Rein
/
Défaillance rénale chronique
/
Protéines associées aux microtubules
/
Mutation
/
Néphrose
Limites du sujet:
Enfant d'âge préscolaire
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2019
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS