A case of acute tubulointerstitial nephritis with suspected Saikokaryukotsuboreito involvement responding to glucocorticoid therapy.

Drug-induced kidney injury is a major cause of acute tubulointerstitial nephritis (AIN). The standard treatment for AIN is discontinuation of the causative agent; however, if discontinuation alone is insufficient, glucocorticoid therapy may be effective. A 51-year-old woman was admitted to our hospital with acute kidney injury, presenting with an estimated glomerular filtration rate (eGFR) of 6.

Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation: A Case Report.

A 44-year-old woman presented with bilateral kidney cysts, scattered hepatic cysts, and a family history of polycystic kidney disease initially suspected of being autosomal dominant polycystic kidney disease (ADPKD). However, her clinical course showed atypical features: a modest total kidney volume increase (436 to 643 mL over 4 years) and rapid progression to end-stage kidney disease by 48 years old. Genetic testing revealed autosomal dominant tubulointerstitial kidney disease caused by a UMOD mutation (ADTKD-UMOD).

A case of autosomal dominant polycystic kidney disease with systemic lupus erythematosus developing after SARS-CoV-2 vaccination.

Although SARS-CoV-2 vaccines, particularly mRNA-based formulations, have demonstrated high efficacy and safety, adverse events including autoimmune activity have been reported. We report a case of systemic lupus erythematosus (SLE) following SARS-CoV-2 vaccination in a 52-year-old Japanese female with autosomal dominant polycystic kidney disease (ADPKD). The patient presented with nephrotic syndrome and severe thrombocytopenia and fulfilled the following four criteria for SLE classification: positive antinuclear antibodies, positive anti-ds-DNA antibodies, renal involvement, and reductions in two blood cell lines (leukopenia and thrombocytopenia).

A Case of Multiple Myeloma in a Patient with Birt-Hogg-Dube Syndrome.

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease caused by germline folliculin (FLCN) mutations and it is characterized by skin folliculomas, pulmonary cysts, and renal cell carcinomas (RCC). We herein report the first case of a female patient with BHDS who was diagnosed with multiple myeloma. Daratumumab-based treatment was effective, and the patient remained responsive for over three years.

MAFB in Macrophages Regulates Prostaglandin E2-Mediated Lipid Mediator Class Switch through ALOX15 in Ischemic Acute Kidney Injury.

Monocytes and macrophages express the transcription factor MAFB (V-maf musculoaponeurotic fibrosarcoma oncogene homolog B) and protect against ischemic acute kidney injury (AKI). However, the mechanism through which MAFB alleviates AKI in macrophages remains unclear. In this study, we induced AKI in macrophage lineage-specific Mafb-deficient mice (C57BL/6J) using the ischemia-reperfusion injury model to analyze these mechanisms.

Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?

The increasing number of patients with chronic kidney disease (CKD) is being recognized as an emerging global health problem. Recently, it has become clear that injury and loss of glomerular visceral epithelial cells, known as podocytes, is a common early event in many forms of CKD. Podocytes are highly specialized epithelial cells that cover the outer layer of the glomerular basement membrane.

Mice lacking core 1-derived O-glycan in podocytes develop transient proteinuria, resulting in focal segmental glomerulosclerosis.

The glomerular filtration barrier is composed of podocytes, glomerular basement membrane, and endothelial cells. Disruption of these structures causes several glomerular injuries, such as focal segmental glomerulosclerosis (FSGS). The surface of podocyte apical membranes is coated by negatively charged sialic acids on core 1-derived mucin-type O-glycans.

Phenotypic analysis of mice carrying human-type MAFB p.Leu239Pro mutation.

The transcription factor, MafB, plays important role in the differentiation and functional maintenance of various cells and tissues, such as the inner ear, kidney podocyte, parathyroid gland, pancreatic islet, and macrophages. The rare heterozygous substitution (p.Leu239Pro) of the DNA binding domain in MAFB is the cause of Focal Segmental Glomerulosclerosis associated with Duane Retraction Syndrome, which is characterized by impaired horizontal eye movement due to cranial nerve maldevelopment in humans.

Mice harboring an MCTO mutation exhibit renal failure resembling nephropathy in human patients.

Multicentric carpotarsal osteolysis (MCTO) is a condition involving progressive osteolysis of the carpal and tarsal bones that is associated with glomerular sclerosis and renal failure (MCTO nephropathy). Previous work identified an autosomal dominant missense mutation in the transactivation domain of the transcription factor MAFB as the cause of MCTO. Several methods are currently used for MCTO nephropathy treatment, but these methods are invasive and lead to severe side effects, limiting their use.

MAFB is dispensable for the fetal testis morphogenesis and the maintenance of spermatogenesis in adult mice.

The transcription factor MAFB is an important regulator of the development and differentiation of various organs and tissues. Previous studies have shown that MAFB is expressed in embryonic and adult mouse testes and is expected to act as the downstream target of retinoic acid (RA) to initiate spermatogenesis. However, its exact localization and function remain unclear.

MafB is a critical regulator of complement component C1q.

The transcription factor MafB is expressed by monocytes and macrophages. Efferocytosis (apoptotic cell uptake) by macrophages is important for inhibiting the development of autoimmune diseases, and is greatly reduced in Mafb-deficient macrophages. Here, we show the expression of the first protein in the classical complement pathway C1q is important for mediating efferocytosis and is reduced in Mafb-deficient macrophages.

Transcription factor MafB may play an important role in secondary hyperparathyroidism.

The transcription factor MafB is essential for development of the parathyroid glands, the expression of which persists after morphogenesis and in adult parathyroid glands. However, the function of MafB in adult parathyroid tissue is unclear. To investigate this, we induced chronic kidney disease (CKD) in wild-type and MafB heterozygote (MafB+/-) mice by feeding them an adenine-supplemented diet, leading to secondary hyperparathyroidism.

Effectiveness of Plasmapheresis in a Patient with Anti-glomerular Basement Membrane Antibody Glomerulonephritis with Advanced Kidney Dysfunction.

Patients with anti-glomerular basement membrane antibody glomerulonephritis (anti-GBM GN) have severe kidney dysfunction, leading to end-stage renal disease. The effect of plasmapheresis and immunosuppressive treatment in patients with severe glomerular changes is controversial. A 62-year-old man was admitted with rapidly progressive glomerulonephritis and diagnosed with anti-GBM GN.

Two autosomal dominant polycystic kidney (ADPKD) cases with advanced renal dysfunction, effectively treated with tolvaptan.

We report here two cases of autosomal dominant polycystic kidney disease (ADPKD) with renal dysfunction that were treated with tolvaptan. Case 1 was a 47-year-old man with a glomerular filtration rate (GFR) of 17.0 ml/min/1.