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Clinical follow-up of 2 families with glomerulopathy caused by gene variants and literature review.
Front Pediatr
January 2025
Department of Pediatric Nephrology, Children's Hospital of Hebei Province Affiliated to Hebei Medical University, Shijiazhuang, China.
Background: Primary coenzyme Q10 (CoQ10) deficiency is an autosomal recessive genetic disease caused by mitochondrial dysfunction. Variants in Coenzyme Q8B () can cause primary CoQ10 deficiency. -related glomerulopathy is a recently recognized glomerular disease that most often presents as steroid-resistant nephrotic syndrome (SRNS) in childhood.
View Article and Find Full Text PDFExpanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFA rare case of steroid-resistant nephrotic syndrome complicated by Wernicke's encephalopathy.
Pediatr Nephrol
January 2025
Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, 1-6-7 Minatojima-minamimachi, Chuo-ku, Kobe, Hyogo, 6500047, Japan.
Wernicke's encephalopathy (WE) is a severe neurological condition caused by the deficiency of thiamine, which is a vitamin B1 molecule. Herein, we present the case of a 3-year-old girl with steroid-resistant nephrotic syndrome (SRNS) who did not achieve remission despite steroid pulse therapy (MPT) and rituximab. She had frequent vomiting and decreased oral intake on the 61st day.
View Article and Find Full Text PDFMicroRNA Expression and Target Prediction in Children with Nephrotic Syndrome.
Indian J Nephrol
June 2024
Department of Human Genetics, Sri Ramachandra Institute of Higher Education and Research (SRIHER), Porur, Chennai, India.
Background: Nephrotic syndrome is a common cause of kidney diseases in children. Many studies have examined the association of microRNAs playing potential roles in many pathophysiological functions. We investigated the expression pattern of the microRNAs miR-17-5P, miR-155p, miR-424-5p in children with steroid sensitive nephrotic syndrome (SSNS) and steroid resistance nephrotic syndrome (SRNS), along with the healthy subjects.
View Article and Find Full Text PDFThe Evolution of Immunosuppressive Therapy in Pig-to-Nonhuman Primate Organ Transplantation.
Transpl Int
January 2025
Center for Transplantation Sciences, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
An overview is provided of the evolution of strategies towards xenotransplantation during the past almost 40 years, focusing on advances in gene-editing of the organ-source pigs, pre-transplant treatment of the recipient, immunosuppressive protocols, and adjunctive therapy. Despite initial challenges, including hyperacute rejection resulting from natural (preformed) antibody binding and complement activation, significant progress has been made through gene editing of the organ-source pigs and refinement of immunosuppressive regimens. Major steps were the identification and deletion of expression of the three known glycan xenoantigens on pig vascular endothelial cells, the transgenic expression of human "protective" proteins, e.
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