Membranous nephropathy (MN) is one of the common glomerular diseases diagnosed in transplanted kidneys. The exact impact of posttransplantation MN on the risk for graft loss and long-term graft outcome is not defined clearly. In recent reports, it has emerged as the third most frequent glomerulonephritis (de novo or recurrent) associated with renal allograft loss. Most cases of posttransplantation MN are thought to be idiopathic but cases associated with established secondary causes also have been reported. Patients can present with varying degrees of proteinuria and graft dysfunction. Risk factors that predict a poor outcome are not well established and unlike MN in the native kidneys, spontaneous remission is rare. Patients should be evaluated carefully for complications associated with nephrotic syndrome or graft dysfunction and managed accordingly. The beneficial effects of steroids, cyclosporine, mycophenolate mofetil, cyclophosphamide, chlorambucil, or other agents have not been validated. The role of specific treatments in cases of secondary MN is uncertain. Retransplantation is a reasonable option for patients who develop graft failure secondary to MN.
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http://dx.doi.org/10.1016/s0270-9295(03)00057-3 | DOI Listing |
Nephrol Dial Transplant
January 2025
Paediatric Nephrology, UZ Leuven and Department of Cellular and Molecular Physiology, KUL, Leuven, Belgium.
Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.
View Article and Find Full Text PDFPLoS Genet
January 2025
Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.
De novo mutations in the RNA binding protein DDX3X cause neurodevelopmental disorders including DDX3X syndrome and autism spectrum disorder. Amongst ~200 mutations identified to date, half are missense. While DDX3X loss of function is known to impair neural cell fate, how the landscape of missense mutations impacts neurodevelopment is almost entirely unknown.
View Article and Find Full Text PDFNeurol Genet
February 2025
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA; and.
Objectives: We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .
Methods: The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Taihe County People's Hospital, Fuyang, Anhui, China.
Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of brain disorders. Variants in the Rho-related BTB domain-containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early-onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. More than half of the variants are located at Arg483 and Arg511 within the BTB domain; however, the underlying mechanism of action of these hotspot variants remains unexplored.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
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