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
em Zh
| WPRIM
| ID: wpr-774030
Biblioteca responsável:
WPRO
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.
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Índice:
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Assunto principal:
Doenças Renais Císticas
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Genética
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Genótipo
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Rim
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Falência Renal Crônica
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Proteínas Associadas aos Microtúbulos
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Mutação
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Nefrose
Limite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2019
Tipo de documento:
Article