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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Kidney Diseases, Cystic
/
Genetics
/
Genotype
/
Kidney
/
Kidney Failure, Chronic
/
Microtubule-Associated Proteins
/
Mutation
/
Nephrosis
Limits:
Child, preschool
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2019
Type:
Article
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