Clinical features and TTC21B genotype of a child with nephronophthisis type 12

JIAN Shan; WEI Qi-Jiao; LIU Yu-Tong; WANG Wei; ZHOU Yu; QUAN Mei-Ying; HE Yan-Yan; SONG Hong-Mei; WEI Min

doi:10.7499/j.issn.1008-8830.2019.06.015

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Chinese Journal of Contemporary Pediatrics ›› 2019, Vol. 21 ›› Issue (6) : 580-584. DOI: 10.7499/j.issn.1008-8830.2019.06.015

CLINICAL RESEARCH

Clinical features and TTC21B genotype of a child with nephronophthisis type 12

JIAN Shan, WEI Qi-Jiao, LIU Yu-Tong, WANG Wei, ZHOU Yu, QUAN Mei-Ying, HE Yan-Yan, SONG Hong-Mei, WEI Min

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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.

Key words

Nephronophthisis type 12 / TTC21B gene / End-stage renal disease / Child

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JIAN Shan, WEI Qi-Jiao, LIU Yu-Tong, WANG Wei, ZHOU Yu, QUAN Mei-Ying, HE Yan-Yan, SONG Hong-Mei, WEI Min. Clinical features and TTC21B genotype of a child with nephronophthisis type 12[J]. Chinese Journal of Contemporary Pediatrics. 2019, 21(6): 580-584 https://doi.org/10.7499/j.issn.1008-8830.2019.06.015

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