Nephrotic syndrome associated with coenzyme Q10 deficiency due to coenzyme Q2 gene mutation: a case report / 中华肾脏病杂志
Chinese Journal of Nephrology
; (12): 138-141, 2023.
Article
Dans Zh
| WPRIM
| ID: wpr-994958
Responsable en Bibliothèque :
WPRO
ABSTRACT
The paper reports a case of coenzyme Q10 deficiency nephrotic syndrome associated with coenzyme Q2 gene mutation and reviews the literature on this topic. The patient presented with hematuria, proteinuria, and a diminution of vision as clinical manifestations. But the proteinuria was not relieved after sufficient doses of glucocorticoids for over 2 months. The patient′s birth history was unremarkable, and his parents were both healthy and not consanguineous. Whole exome sequencing revealed that the patient had a mutation of coenzyme Q2 gene at c.973A>G(p.T325A) and c.517C>T(p.R173C). Combined with renal biopsy pathology, the patient was diagnosed with hereditary nephropathy and started the supplements of coenzyme Q10 after stopping glucocorticoid treatments immediately. After 5 weeks of therapy, the patient′s 24-h urine protein quantification decreased from 6.01 g to 1.53 g.
Texte intégral:
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Indice:
WPRIM
langue:
Zh
Texte intégral:
Chinese Journal of Nephrology
Année:
2023
Type:
Article