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.

Type II Cryoglobulinemic Membranoproliferative Glomerulonephritis Caused by Mucosa-associated Lymphoid Tissue Lymphoma.

A 67-year-old man complained of lower limb edema with a purpuric skin rash. Laboratory tests revealed proteinuria, elevated serum creatinine levels, and low serum albumin levels. The patient was also positive for cryoglobulin in serum, immunoglobulin (Ig) M gammopathy, hypocomplementemia, and rheumatoid factor. He was negative for anti-hepatitis C virus antibodies. A pathological analysis of the renal tissue revealed membranoproliferative glomerulonephritis, common histological features of cryoglobulinemic vasculitis (CV), and mucosa-associated lymphoid tissue lymphoma invasion. Although hematologic malignancy is a rare cause of type II CV, these clinical findings suggest that mucosa-associated lymphoid tissue lymphoma (MALT) lymphoma may have been the cause in the present case.

Pseudohypercreatininemia after surgery for aortic dissection: a case report.

BACKGROUND: Elevated creatinine concentrations often indicate acute renal injury and renal biopsies are considered in this situation. However,pseudohypercreatininemia is potential cause of elevated creatinine concentrations, and invasive interventions should be avoided. CASE PRESENTATION: A 54-year-old woman underwent surgery for descending aortic dissection.Nine days postoperatively, her creatinine concentration increased from 1 mg/dl to 5.78 mg/dl (normal range, 0.47-0.7 mg/dl). Azotemia and hyperkalemia were absent and physical examination findings were unremarkable. Cystatin C concentration was 1.56 mg/l (normal range, 0.56-0.8 mg/l) and pseudohypercreatininemia was suspected. Testing with different reagents showed a creatinine concentration of 0.84 mg/dl. Immunoglobulin (Ig)G was markedly elevated, and creatinine and IgG fluctuated in parallel, suggesting the cause of the pseudohypercreatininemia. IgG4 was also elevated at 844 mg/dl. Immunosuppressive steroid therapy effectively decreased the IgG concentration and resolved the pseudohypercreatininemia. CONCLUSIONS: In cases of elevated creatinine concentration with the presence of abnormal proteins, pseudohypercreatininemia should be considered. We report a rare case of pseudohypercreatininemia caused by polyclonal IgG.

Hemodialysis treatment time versus erythropoietin dose requirement: Reduction in 2,000 units per week by extension of hemodialysis for 1 hour
.

INTRODUCTION: High-dose erythropoietin (EPO) administration to hemodialysis (HD) patients with EPO hyporesponsiveness, due to iron deficiency, hyperparathyroidism, malnutrition, inflammation, and inadequate HD, results in increased risk of mortality and cardiovascular events. We investigated the relationship of the EPO dose requirement with 4-, 5-, and 6-hour HD treatment times. MATERIALS AND METHODS: This cross-sectional study enrolled 300 HD patients, including those on 4-hour HD (n = 78), 5-hour HD (n = 106), and 6-hour HD (n = 116). We studied the following parameters: weekly EPO dose, hemoglobin (Hb), serum ferritin, Kt/V, membrane surface area, quantity of blood flow, quantity of dialysate flow, age, HD vintage, serum albumin, C-reactive protein (CRP), intact parathyroid hormone (iPTH), and ß2-microglobulin. These parameters were analyzed with JMP9TM statistical software. FINDINGS: The EPO requirement (units per week) of the 6-hour HD group (4,035 ± 269) was significantly lower than that of the 5-hour HD group (6,628 ± 630), which was significantly lower than that of the 4-hour HD group (8,567 ± 684). The Hb level, mean corpuscular volume, quantity of blood flow, quantity of dialysate flow, age, gender, ratio of diabetic patients, body mass index, dry weight, CRP, iPTH, use of antiplatelet agents and anticoagulants were not significantly different among the three groups. Multiple regression analysis with the weekly EPO requirement as the dependent variable showed HD treatment time (p < 0.0001) and CRP level (p < 0.001) as the significant independent variables. DISCUSSION: The EPO dose can be reduced by ~ 2,000 U/week by extending the HD treatment time for 1 hour; annual cost savings were calculated to be USD 570 per patient.

Effects of hydrogen-rich water in a rat model of polycystic kidney disease.

Various factors are considered to be mechanisms of the increase in the sizes of cysts in patients with polycystic kidney disease. Vasopressin is one of the causes, and drinking large volumes of water shows an effect of suppressing an increase in cysts. On the other hand, it is known that hydrogen-rich water reduces oxidative stress and has a good effect on kidney injury. We examined whether drinking large volumes of hydrogen-rich water affected the increase in the sizes of cysts. Forty 5-week-old PCK rats were randomly assigned to four groups: C(Control), purified water; W(Water), water with sugar; H(Hydrogen), hydrogen-rich water; WH(Water+Hydrogen), hydrogen-rich water with sugar. They consumed water from 5 to 15 weeks of age. The intake of water in the groups in which sugar was added to the water (W, WH) significantly increased in comparison to C, but there was no significant change in the serum Creatinine concentration. The kidney weight per body weight in W was significantly decreased in comparison to C. The kidney weights in H and WH were significantly increased in comparison to W. There were no significant differences in the ratio of the cross-sectional area of the cysts to the whole area among the groups. This experiment showed that the effect of drinking large volumes of hydrogen-rich water was not significantly different from that of normal water, in terms of preventing an increase in the size of cysts in PCK rats. However, some papers acknowledge the influence of hydrogen water. Significant differences might become obvious if we change aspects such as the administration method or administration period.

Risks and Benefits of Sodium Polystyrene Sulfonate for Hyperkalemia in Patients on Maintenance Hemodialysis.

BACKGROUND: Concerns about sodium overload when using sodium polystyrene sulfonate (Na-resin) as an ion-exchange resin for the treatment of hyperkalemia led our institution to gradually shift to the use of calcium polystyrene sulfonate (Ca-resin). However, as serum potassium levels were insufficiently controlled and patients experienced constipation, we returned to using Na-resin and observed better results than previously. OBJECTIVE: As few papers have examined the potassium adsorption ability of Ca-resin compared with Na-resin, we investigated this issue within our institution. METHODS: We studied potassium adsorption in patients who switched from Ca-resin to an equivalent amount of Na-resin (change group). We also investigated the incidence of sodium loading with Na-resin, including in patients newly commencing Na-resin treatment (new start group). RESULTS: Mean (± standard deviation) serum potassium levels decreased significantly, from 5.5 ± 0.6 to 4.9 ± 0.6 mEq/l in the change group and from 5.9 ± 0.4 to 4.7 ± 0.6 mEq/l in the new start group. No changes were observed in blood pressure, weight gain or serum sodium levels in the change group, but serum sodium levels in the new start group increased significantly, from 137.4 ± 2.3 to 139.0 ± 2.5 mEq/l, although they remained within the normal range. CONCLUSIONS: Our results indicate that Na-resin exhibited an advantage in treating hyperkalemia when used in small amounts. However, when prescribing an ion-exchange resin at a higher dose, physicians should select the type and amount of resin according to the sodium and/or calcium load in each case.

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.