A Classical Phenotype of Fabry Disease with Novel Mutation Found by Kidney Biopsy, A Case Report.

Fabry disease (FD) is a multi-organ disorder caused by a deficiency of alpha-galactosidase (α-GLA) or reduced activity of the enzyme due to mutations in the GLA gene on the X chromosome, making it an X-linked hereditary disease. A 37-year-old man previously diagnosed with sudden deafness and cardiac hypertrophy was referred to our department after an abnormal urine finding during a public health checkup. A renal biopsy revealed characteristic findings, and he was diagnosed with FD with a novel GLA abnormality (c.714dupT (p.I239Yfs*11)). We are currently administering enzyme replacement therapy (ERT) with agalsidase α. This case shows that a novel genetic abnormality in FD can be overlooked for 37 years, even in the presence of typical symptoms. The significance of a renal biopsy in diagnosing FD is emphasized, highlighting the crucial role of nephrologists.  DOI: 10.52547/ijkd.7595.

A case of anti-neutrophil cytoplasmic antibody-associated vasculitis with anti-glomerular basement membrane antibodies that was successfully treated with mizoribine as a safe and effective remission maintenance therapy with prednisolone and plasma exchange.

We herein report the case of myeloperoxidase (MPO) anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis with anti-glomerular basement membrane (anti-GBM) antibody positivity that successfully treated with mizoribine (MZR) as an immunosuppressive drug for remission maintenance therapy after the initiation of dialysis in addition to plasma exchange (PE) and glucocorticoid treatment to control the disease condition. A 79-year-old woman developed serious renal dysfunction and pulmonary alveolar hemorrhaging due to MPO-ANCA and anti-GBM antibody double-positive vasculitis. She was started on hemodialysis and was treated with methylprednisolone (m-PSL) pulse therapy with PE, followed by oral prednisolone (PSL). The pulmonary alveolar hemorrhaging disappeared, and both antibody titers immediately decreased but then rose again. Thus, m-PSL pulse therapy performed again in combination with combined with MZR treatment. Her poor renal function was irreversible; however, this therapy decreased both antibody titers, and they did not increase again. The patient developed pancytopenia and hyperuricemia. It was considered likely that these conditions developed in association with MZR treatment. We, therefore, measured the patient's blood concentration of MZR, and the maintenance dose was finally set at 50 mg after each dialysis session. The patient's pancytopenia and hyperuricemia improved and PSL could be smoothly tapered. This is the first case report of the use of MZR for remission maintenance therapy in a patient on hemodialysis who was positive for both ANCA and anti-GBM antibodies. The findings suggest that MZR can be used safely and effectively in such cases.

Focal segmental glomerulosclerosis in which urinary protein improved after surgical treatment for acromegaly: a case report.

BACKGROUND: Focal segmental glomerulosclerosis is characterized by partial (segmental) sclerotic lesions in some glomeruli (focal). Primary focal segmental glomerulosclerosis is generally considered resistant to steroid therapy. However, acromegaly is a disease that causes peculiar facial features, body types, and metabolic abnormalities due to the excessive secretion of growth hormone by a pituitary adenoma. Growth hormone has been reported to be involved in glomerular cell growth, mesangial proliferation, and glomerulosclerosis in the kidney. CASE PRESENTATION: We report a case of a Japanese patient with focal segmental glomerulosclerosis in whom decreased urinary protein was observed after surgical treatment for acromegaly. CONCLUSION: The patient's urinary protein improved as the concentration of growth hormone/insulin-like growth factor 1 decreased.

Use of the Dorsal Vein of the Hand for Arteriovenous Fistula Creation.

A radiocephalic arteriovenous fistula (AVF) in the anatomical snuffbox is the most distal site of AVF in the upper limb. When the cephalic vein distal to the wrist is in poor condition or thrombosed, creating the typical radiocephalic AVF in the distal forearm just proximal to the wrist will likely be considered. However, we have adopted an operative technique for creating a transposed radial artery-dorsal metacarpal vein AVF (RDAVF) in the anatomical snuffbox when possible in such cases. RDAVF is AVF using the most peripheral autologous vein in the upper limb. To our knowledge, the creation of an RDAVF has not been previously reported. We herein describe the steps of the technique and report the successful treatment of a hemodialysis patient who developed occlusion of a radiocephalic AVF in the anatomical snuffbox.

Restoration of Autologous Arteriovenous Fistula by Removal of the Occluded Short Venous Part and Venovenous End-To-End Anastomosis in a Hemodialysis Patient.

Standard salvage procedures for occuluded autologous arteriovenous fistula (AVF) in a hemodialysis patient are endovascular and/or surgical therapy. When endovascular therapy and thrombectomy prove unsuccessful, it is most likely that creating a new AVF or arteriovenous graft will be considered. However, if the occuluded venous part is short, we have adopted an operative technique for repair of AVF by removal of the occluded short venous part and venovenous end-to-end anastomosis. To our knowledge, the efficacy and clinical course of restoration of AVF by the technique have not been reported to date. Here, we describe the technique and report the successful treatment of a hemodialysis patient who developed AVF occlusion.

Long-term outcomes of tonsillectomy for IgA nephropathy patients: A retrospective cohort study, two-centre analysis with the inverse probability therapy weighting method.

AIM: The effect of tonsillectomy on IgA nephropathy remains controversial. The aim of this study was to compare the effect of tonsillectomy on the outcome, end stage kidney disease (ESKD) and all-cause death in IgA nephropathy patients who did and did not undergo tonsillectomy. METHODS: All basic data were retrospectively gathered from patients who had undergone renal biopsies at two Japanese clinical centres. Two hundred and twenty-seven patients were eligible for the study, with a median age of 34 (Interquartile range (IQR): 25-43) years and median follow-up of 92 (IQR: 40-178) months. The primary endpoint was the composite outcome of the onset of ESKD and all-cause death before ESKD. We performed a Cox proportional hazard regression analysis after adjusting for patient characteristics using the inverse probability therapy weighting (IPTW) method and a Cox analysis using the Matching method. Similarly, we analyzed these outcomes in a mild cohort. RESULTS: We were unable to find any significant advantages of tonsillectomy in either analysis (IPTW and matching, HR: 0.40 (0.12-1.36) P = 0.072 and 0.78 (0.13-4.64) P = 0.786). However, in the mild cohort analysis, our data showed that the Tonsillectomy group tended to be less likely to reach the composite outcomes than the Not Tonsillectomy group with statistical significance (hazard ratio (HR), <0.001 [CI <0.001 to <0.001, P = 0.039]). CONCLUSION: In this study, our findings led us to conclude that performing tonsillectomy in an early and timely manner may have predisposition of less poor prognosis.

Successful treatment of a patient with refractory nephrotic syndrome with PCSK9 inhibitors: a case report.

BACKGROUND: The proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor evolocumab is a low-density lipoprotein (LDL)-lowering drug with a new mechanism, which is currently available in Japan. Here, for the first time, we report the successful use of the PCSK9 inhibitor in a patient with refractory nephrotic syndrome. CASE PRESENTATION: A 61-year-old woman was diagnosed with minimal change-type nephrotic syndrome in October 2012. She received prednisolone (PSL) and cyclosporin A (CyA), but she experienced several cycles of relapse and remission and was hospitalized in May 2016 due to relapse. However, in spite of steroid pulse therapy and adrenocorticotropic hormone (ACTH) administration, her urinary protein level did not improve. We started her on evolocumab with the expectation of equivalent LDL-lowering effects as seen with LDL apheresis. After that, the LDL cholesterol level and UP/UC were concomitantly decreased, and the serum albumin was increased. This was maintained even when we reduced the PSL dose. This suggests that evolocumab clinically improves the nephrotic condition. CONCLUSION: No other report has described the use of evolocumab for nephrotic syndrome (NS) or its effect on similar nephrotic conditions. We believe that the findings presented here are unique and may be beneficial when treating similar cases.

A rare adult case of poststreptococcal acute glomerulonephritis with a retropharyngeal abscess.

Retropharyngeal abscess is an infection involving the retropharyngeal space which is posterior to the pharynx and oesophagus, and it results as a complication of a primary infection elsewhere in the head and neck including the nasopharynx, paranasal sinuses, or middle ear, which drain lymph to the retropharyngeal lymph nodes. Their lymph nodes are prominent in children and atrophy with age. Therefore, retropharyngeal abscess is most frequently encountered in children, with 75% of cases occurring before the age of 5 years, and often in the first year of life. We experienced a rare adult case of poststreptococcal acute glomerulonephritis with a retropharyngeal abscess, and conservative therapy ameliorated them. According to past reports, only one child with a retropharyngeal abscess and poststreptococcal acute glomerulonephritis has been presented at a conference to date; this is the first adult case of poststreptococcal acute glomerulonephritis with a retropharyngeal abscess. Retropharyngeal abscess can be fatal including airway compression, so it is important to remember retropharyngeal abscess in a case of poststreptococcal acute glomerulonephritis with severe symptoms of neck.

A report of an adult case of tubulointerstitial nephritis and uveitis (TINU) syndrome, with a review of 102 Japanese cases.

BACKGROUND: Although TINU syndrome is characterized by idiopathic TIN with bilateral anterior uveitis, few reports have provided a comprehensive summary of the features of this disorder. Previous reports have suggested that many Japanese patients had HLA-A2 and -A24 (7), but there is no evidence. CASE REPORT: A 44-year-old female was referred to our hospital due to renal dysfunction in March 2012. After admission, her symptoms improved spontaneously without medication within 2 weeks. In the outpatient clinic, she was diagnosed with idiopathic bilateral anterior uveitis in May, and her renal dysfunction relapsed in November. A renal biopsy showed diffuse TIN. We made a diagnosis of TINU syndrome because we could not explain the origin, and treated her with a systemic corticosteroid. Her renal function and ocular symptoms have been improving. The patient had HLA-A24, -B7, -DR1, -C*07: 02 and -DQB1*05: 01: 01. We collected 102 Japanese cases in PubMed, Ovid MEDLINE, and the Japanese Medical Abstracts Society and compared our case with the previous cases. CONCLUSIONS: This disorder affects primarily young females (median age, 14 years), and the most common symptom is fever (44/102 cases). We conducted a statistical analysis using contingency table and Pearson's chi-square test, for HLA-A2 and A24, and calculated the odds ratio (OR). There are no significant differences (A2 was present in 7/22 cases and in 19/50 controls, p value (P) 0.61, OR 0.76 (95% confidence interval (CI)) 0.27-2.2; A24 was present in 10/22 cases and in 33/50 controls, P 0.10, OR 0.43, CI 0.16-1.2).