Effective Treatment of a Post-renal Transplantation Patient with Early Recurrent Focal Segmental Glomerulosclerosis and Concomitant Hemolytic Uremic Syndrome, a Case Report

While recurrence of primary Focal Segmental Glomerular Sclerosis (FSGS) is common post renal transplantation (30%-80%), a concomitant presentation of hemolytic uremic syndrome (HUS) and recurrent FSGS has never been reported. In addition, treatment of recurrent FSGS and HUS post-renal transplantation is challenging; and usually individualized based on center's experience. Here, we reported a case of a pediatric patient with early recurrence of FSGS and concomitant HUS post-renal transplantation. This patient had a complete hematological and renal response following the administration of Eculizumab and Rituximab, respectively. Withdrawal of Tacrolimus as well as plasmapheresis did not improve kidney function. Therefore, we concluded that both Eculizumab and Rituximab could achieve remission in comparable cases when administered at fixed intervals.

A point mutation of mitochondrial genes in diabetes and deafness with focal segmental glomerular sclerosis

Deafness, diabetes and proteinuria are typically understood to be an uncommon combination. Here, we reported a 26-year-old woman with a history of persistent deafness, diabetes mellitus, and proteinuria. The diagnosis mainly depends on clinical symptoms, but the cause of the disease should be examined. The histological finding in renal biopsy showed secondary focal segmental glomerular sclerosis (FSGS), but not classic diabetic nephropathy. Further pathogeny was found. Subsequently, a 3243A>G mutation in the mitochondrial DNA was found. Thus, the diagnosis of maternally inherited deafness and diabetes (MIDD) was considered. Ineffective and unnecessary immunosuppression can be avoided through timely diagnosis. Long-term treatment of CoQ10 can be useful in MIDD patients.

Schimke immune osseous dysplasia: a rare case report

Schimke immune-osseous dysplasia (SIOD) is primarily characterized by the combination of spondyloepiphyseal dysplasia (SED), unique clinical phenotype, immune complex nephropathy (focal segmental glomerulosclerosis) and progressive immune defects with T-cell immunodeficiency. SIOD is caused by mutations in SMARCAL1 gene. Here we report a case of a 6-year-old girl who presented to us with disproportionate short stature, short neck kyphoscoliosis, hyper pigmented macules and severe herpes zoster. On further evaluation, she had evidence of T cell deficiency and nephrotic range of proteinuria. Renal histopathology documented focal segmental glomerular sclerosis. Genetic analysis confirmed homozygous missense mutation of SMARCAL gene on exon 8 variant c1358G>c. On extensive literature survey, this is noted to be the first case of SIOD reported from India. These children need close surveillance to watch for infections and progressive renal failure and require special care during administration of certain drugs and live vaccines.

P0364A NOVEL INTERPLAY BETWEEN INTESTINAL BACTERIA AND METABOLITES IN IGA NEPHROPATHY IDENTIFIED VIA INTEGRATED MICROBIOME AND METABOLOME APPROACHES

Background and Aims Immunoglobulin A nephropathy (IgAN) is the most common form of primary glomerulonephritis. Intestinal bacteria and their metabolites have been implicated in various diseases. Improved understanding of the gut microbiota and its metabolic capabilities will facilitate development of diagnostic, therapeutic, and prognostic methods for IgAN Method We identified gut microbiota and metabolite biomarkers of IgAN by analyzing microbiomes and metabolomes of fecal and serum samples of IgAN patients and healthy controls using 16s ribosomal RNA gene sequencing and liquid chromatography-tandem mass spectrometry, respectively, and bioinformatics approaches Results We found that relative abundances of Streptococcus and Enterococcus were higher in IgAN patients, whereas Bacteroidetes and Bacteroides were lower. The changes in gut microbiota affected metabolism and absorbance of microbiota-associated metabolites of IgAN patients, in particular polyunsaturated fatty acids, free amino acids and oligopeptides, and activated the phenylalanine metabolism pathway. Also, 5-hydroxyeicosatetraenoic acid and 5-hydroxy-6E,8Z,11Z-eicosatrienoic acid were proved to be associated with the classification of segmental glomerular sclerosis but not 24h urine protein and estimated glomerular filtration rate. Conclusion Our findings demonstrate an interplay between intestinal bacteria and metabolites in IgAN. The identified metabolites may have diagnostic and therapeutic applications.