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Abstract Background Fanconi syndrome is a disorder of the proximal tubule that leads to malabsorption of various electrolytes and substances and is a common consequence of drug-induced nephrotoxicity. However, cases of dietary supplement-induced Fanconi syndrome are rare, and detailed reports on the evaluation of renal histology in patients with this syndrome are lacking. Case presentation We present two cases of dietary supplement-induced Fanconi syndrome that was confirmed by kidney biopsy. Based on their medical history and laboratory and histological findings, both cases were diagnosed as acute proximal tubular injury caused by ingestion of a lipid-lowering dietary supplement containing beni-koji leading to Fanconi syndrome. After discontinuation of the dietary supplement and correction of dehydration and electrolyte imbalance, renal function completely recovered in one case but progressed to chronic kidney disease in the other. Conclusions Clinicians should consider dietary supplement-induced Fanconi syndrome as a differential diagnosis in patients who become ill while taking a dietary supplement. Kidney biopsy is useful for diagnosing acute tubular injury with Fanconi syndrome and investigating its pathogenesis. Patients who have developed dietary supplement-induced Fanconi syndrome require long-term monitoring to detect and prevent progression to chronic kidney disease.

Heavy chain deposition disease (HCDD) is a rare complication of plasma cell dyscrasias, characterized by nonamyloid tissue deposits of incomplete monoclonal heavy chains in renal tissues. We report the case of a 78-year-old female with HCDD who was successfully treated with bortezomib and dexamethasone (BD); histopathological improvements were confirmed by kidney biopsy after 2 years of chemotherapy. She presented with renal insufficiency, proteinuria, hematuria, hypogammaglobulinemia, and hypocomplementemia. Renal biopsy showed diffuse global nodular glomerulopathy with the deposition of IgG1 and C3 in the glomeruli and on the tubular basement membrane. Kappa and lambda light chains were not detected. Staining for the constant regions of the gamma heavy chain revealed the absence of the CH1 domain. These findings are consistent with those of gamma 1 HCDD. Results of liquid chromatography-tandem mass spectrometric analysis were consistent with the immunohistochemical results. Two years after weekly BD therapy, normalization of the kappa/lambda ratio and reduction of urinary protein excretion were achieved. A follow-up biopsy showed remarkable diminution of nodular lesions of glomeruli and deposits of IgG and C3. Keywords: Heavy chain deposition disease, Bortezomib, Liquid chromatography-tandem mass spectrometry

Abstract Background Visceral disseminated varicella zoster viral (VZV) infection is a rare but severe complication with a high mortality rate in immunosuppressed individuals, and an increased susceptibility to VZV has been reported in kidney transplant recipients who are treated with mycophenolate mofetil (MMF). In Japan, MMF is currently approved for patients with lupus nephritis (LN) and data to indicate its optimal dosage are still insufficient. Case presentation A 46-year-old Japanese woman with rheumatoid arthritis was diagnosed as having systemic lupus erythematosus (SLE) and LN class III (A/C). Although initial remission-induction therapy with prednisolone and tacrolimus was started, her serum creatinine level and urinary protein excretion were elevated. Methylprednisolone pulse therapy was added, and tacrolimus was switched to MMF. Two months after admission when she was taking 40 mg of PSL and 1500 mg of MMF daily, she suddenly developed upper abdominal pain and multiple skin blisters, and disseminated visceral VZV infection was diagnosed. Laboratory examinations demonstrated rapid exacerbation of severe acute liver failure and coagulation abnormalities despite immediate multidisciplinary treatment, and she died of hemorrhagic shock 7 days after the onset of abdominal pain. A serum sample collected at the time of admission revealed that she had recursive VZV infection. Conclusions MMF together with high-dose glucocorticoid therapy may increase the risk of VZV infection in Asian patients with SLE. Accumulation of evidence for parameters of safety, such as the area under the blood concentration–time curve of mycophenolic acid, should be urgently considered in order to establish a safer protocol for remission induction therapy in Asian patients with LN.

To understand functions and diseases of urinary bladder, it is important to define its molecular constituents and their roles in urinary bladder biology. Here, we performed genome-wide deep RNA sequencing analysis of human urinary bladder samples and identified genes up-regulated in the urinary bladder by comparing the transcriptome data to those of all other major human tissue types. 90 protein-coding genes were elevated in the urinary bladder, either with enhanced expression uniquely in the urinary bladder or elevated expression together with at least one other tissue (group enriched). We further examined the localization of these proteins by immunohistochemistry and tissue microarrays and 20 of these 90 proteins were localized to the whole urothelium with a majority not yet described in the context of the urinary bladder. Four additional proteins were found specifically in the umbrella cells (Uroplakin 1a, 2, 3a, and 3b), and three in the intermediate/basal cells (KRT17, PCP4L1 and ATP1A4). 61 of the 90 elevated genes have not been previously described in the context of urinary bladder and the corresponding proteins are interesting targets for more in-depth studies. In summary, an integrated omics approach using transcriptomics and antibody-based profiling has been used to define a comprehensive list of proteins elevated in the urinary bladder.

To understand renal functions and disease, it is important to define the molecular constituents of the various compartments of the kidney. Here, we used comparative transcriptomic analysis of all major organs and tissues in the human body, in combination with kidney tissue micro array based immunohistochemistry, to generate a comprehensive description of the kidney-specific transcriptome and proteome. A special emphasis was placed on the identification of genes and proteins that were elevated in specific kidney subcompartments. Our analysis identified close to 400 genes that had elevated expression in the kidney, as compared to the other analysed tissues, and these were further subdivided, depending on expression levels, into tissue enriched, group enriched or tissue enhanced. Immunohistochemistry allowed us to identify proteins with distinct localisation to the glomeruli (n = 11), proximal tubules (n = 120), distal tubules (n = 9) or collecting ducts (n = 8). Among the identified kidney elevated transcripts, we found several proteins not previously characterised or identified as elevated in kidney. This description of the kidney specific transcriptome and proteome provides a resource for basic and clinical research to facilitate studies to understand kidney biology and disease.