[Clinical features and TTC21B genotype of a child with nephronophthisis type 12].
Zhongguo Dang Dai Er Ke Za Zhi
; 21(6): 580-584, 2019 Jun.
Article
en Zh
| MEDLINE
| ID: mdl-31208513
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 ß2-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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades Renales Quísticas
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Fallo Renal Crónico
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Proteínas Asociadas a Microtúbulos
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Nefrosis
Límite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Año:
2019
Tipo del documento:
Article