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Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.
Lin, Kyle Ying-Kit; Lam, Ching-Wan; Chan, Eugene Yu-Hin; Lee, Mianne; Chung, Brian Hon-Yin; Fung, Cheuk-Wing; Rodenburg, Richard; Licht, Christoph; Lap-Tak Ma, Alison.
Afiliación
  • Lin KY; Paediatric Nephrology, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, China.
  • Lam CW; Department of Pathology, University of Hong Kong, Hong Kong, SAR, China.
  • Chan EY; Paediatric Nephrology, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, China.
  • Lee M; Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, SAR, China.
  • Chung BH; Department of Paediatric and Adolescent Medicine, School of Clinical Medicine, Faculty of Medicine, Li Ka Shing, The University of Hong Kong, Hong Kong, SAR, China.
  • Fung CW; Department of Paediatric and Adolescent Medicine, School of Clinical Medicine, Faculty of Medicine, Li Ka Shing, The University of Hong Kong, Hong Kong, SAR, China.
  • Rodenburg R; Metabolic Medicine, Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, SAR, China.
  • Licht C; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Lap-Tak Ma A; Department of Paediatrics, University of Toronto, Toronto, Canada.
Pediatr Nephrol ; 2024 Sep 03.
Article en En | MEDLINE | ID: mdl-39225810
ABSTRACT
We report a child with biallelic COQ6 variants presenting with familial thrombotic microangiopathy (TMA). A Chinese boy presented with steroid-resistant nephrotic syndrome at 8 months old and went into kidney failure requiring peritoneal dialysis at 15 months old. He presented with hypertensive encephalopathy with the triad of microangiopathic haemolytic anaemia, thrombocytopenia, and acute on chronic kidney injury at 25 months old following a viral illness. Kidney biopsy showed features of chronic TMA. He was managed with supportive therapy and plasma exchanges and maintained on eculizumab. However, he had another TMA relapse despite complement inhibition a year later. Eculizumab was withdrawn, and supportive therapies, including ubiquinol (50 mg/kg/day) and vitamins, were optimized. He remained relapse-free since then for 4 years. Of note, his elder sister succumbed to multiple organ failure with histological evidence of chronic TMA at the age of 4. Retrospective genetic analysis revealed the same compound heterozygous variants in the COQ6 gene.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Alemania