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Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by bilateral kidney cysts that ultimately lead to end-stage kidney disease. While the major causative genes of ADPKD are PKD1 and PKD2, other genes are also thought to be involved. Fifty ADPKD patients were analyzed by exome sequencing or multiplex ligation-dependent probe amplification (MLPA), followed by long polymerase chain reaction and Sanger sequencing. Variants in PKD1 or PKD2 or GANAB were detected in 35 patients (70%). Exome sequencing identified 24, 7, and 1 variants in PKD1, PKD2, and GANAB, respectively, in 30 patients. MLPA analyses identified large deletions in PKD1 in three patients and PKD2 in two patients. We searched 90 cyst-associated genes in 15 patients who were negative by exome sequencing and MLPA analyses, and identified 17 rare variants. Four of them were considered "likely pathogenic" or "pathogenic" variants according to the American College of Medical Genetics and Genomics guidelines. Of the 11 patients without a family history, four, two, and four variants were found in PKD1, PKD2, and other genes, respectively, while no causative gene was identified in one patient. While the pathogenicity of each variant in these genes should be carefully assessed, a comprehensive genetic analysis may be useful in cases of atypical ADPKD. [ABSTRACT FROM AUTHOR]

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst/multilocular cystic nephroma/polycystic nephroma, multicystic kidney/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD). However, there are other cystic kidney diseases that usually require genetic testing, or another means of supplementing clinical information to enable a differential diagnosis of ADPKD. These include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), nephronophthisis (NPH), oral-facial-digital (OFD) syndrome type 1, and neoplastic cystic kidney disease, such as tuberous sclerosis (TSC) and Von Hippel-Lindau (VHL) syndrome. To help physicians evaluate cystic kidney diseases, this article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD. [ABSTRACT FROM AUTHOR]

Autosomal recessive polycystic kidney disease ht Diagnostic criteria for ADPKD as an intractable disease A patient must fulfil either of the following criteria to be diagnosed with ADPKD: Red area of the CKD severity classification heat map. In 2020, the Research for Intractable Renal Diseases of the Ministry of Health, Labour and Welfare of Japan established the Committee of Guideline for Polycystic Kidney Disease, which published (A Digest from Evidence-Based Clinical Practice Guideline for Polycystic Kidney Disease 2020) on the website (jin-shogai.jp/policy/index.html). However, the effect of valvular disease therapy on the prognosis of patients with ADPKD with valvular disease remains unknown. B Prediction of eGFR in patients with class 1 ADPKD Prevalence and prognosis The results of a 1994 epidemiological survey yielded an estimated 31,000 (diagnosed and undiagnosed) patients with ADPKD in Japan, with one in 4033 Japanese citizens estimated to have the disease. [Extracted from the article]

Somatostatin (SS) controls pulsatile growth hormone (GH) secretion and reduces the mass and frequency of GH secretory bursts. An ultrasensitive immunoflourometric analysis of serum GH concentrations in blood shows that the SS infusion in fasting young adult males decreases both the amplitude and frequency of GH secretory episodes without blocking pulsatile GH secretion completely. The results suggest that the hormone secretory pulse mass and frequency jointly control the serum GH concentrations in blood.

The effect of Mo on the corrosion behavior of Ni20Cr–xMo alloys in an oxidizing chlorine‐containing atmosphere using air mixed with the salt‐vapor mixture of NaCl–KCl–CaCl2 at 570°C was investigated. The results revealed that the corrosion performance of the Ni20Cr alloys in the oxidizing chlorine atmosphere was improved by Mo addition of up to 3 wt%. The Mo‐free alloy formed a potassium chromate during corrosion as a result of the reaction between the Cr2O3 scale and KCl vapor. The chromate formation increased the chlorine potential at the scale surface and induced the breakdown of the protective Cr2O3 scale, resulting in internal chromium chloride precipitates and a Cr‐depleted zone. In contrast, the presence of Mo resulted in the formation of a NiO scale, which did not react with the salt vapors and, therefore, prevented the formation of chromates. The beneficial effect of Mo on the high‐temperature chlorination of Ni–Cr alloys in salt‐vapor‐containing atmospheres was ascribed to the suppression of chlorine generation due to NiO scale formation. [ABSTRACT FROM AUTHOR]

Background: Practice patterns and bleeding complications of percutaneous native kidney biopsy (PNKB) have not recently been investigated and the Japanese Society of Nephrology performed a nationwide questionnaire survey in 2018. Methods: The survey consisted of nine sections about PNKB: (1) general indications; (2) indications for high-risk patients; (3) informed consent; (4) pre-biopsy evaluation; (5) procedures; (6) sedation; (7) post-biopsy hemostasis, bed rest, and examinations; (8) bleeding complications; and (9) specimen processing. A supplementary survey examined bleeding requiring transcatheter arterial embolization (TAE). Results: Overall, 220 directors of facilities (nephrology facility [NF], 168; pediatric nephrology facility [PF], 52) completed the survey. Indications, procedures, and monitoring protocols varied across facilities. Median lengths of hospital stay were 5 days in NFs and 6 days in PFs. Gauge 14, 16, 18 needles were used in 5%, 56%, 33% in NFs and 0%, 63%, 64% in PFs. Mean limits of needle passes were 5 in NFs and 4 in PFs. The bed rest period was 16–24 h in 60% of NFs and 65% of PFs. Based on 17,342 PNKBs, incidence rates of macroscopic hematuria, erythrocyte transfusion, and TAE were 3.1% (NF, 2.8%; PF, 6.2%), 0.7% (NF, 0.8%; PF, 0%), and 0.2% (NF, 0.2%; PF, 0.06%), respectively. Forty-six percent of facilities processed specimens all for light microscopy, immunofluorescence, and electron microscopy, and 21% processed for light microscopy only. Timing of bleeding requiring TAE varied among PNKB cases. Conclusion: Wide variations in practice patterns of PNKB existed among facilities, while PNKBs were performed as safely as previously reported. [ABSTRACT FROM AUTHOR]

The high‐temperature corrosion behavior of Ni–xFe–5Cr alloys (x = 0, 10, or 30 wt.%) was investigated in air containing alkali salt vapor at 570°C to clarify the effect of Fe on the corrosion resistance. Fe addition to Ni–5Cr was found to improve the corrosion resistance under the present conditions. In the case of Ni–5Cr, NiCl2 was formed beneath the NiO scale during the initial stage of corrosion, and it grew thicker over time and then evaporated. The formation and evaporation of NiCl2 resulted in a porous scale that underwent spallation resulting in mass loss. In the Fe‐containing alloys, (Fe, Ni, Cr)3O4 spinel and Fe3O4 decreased the partial pressures of oxygen and chlorine and thus prevented the generation of NiO and NiCl2, leading to superior corrosion resistance compared with Ni–5Cr. [ABSTRACT FROM AUTHOR]

Background: Intradialytic hypertension (HTN), which is one of the poor prognostic markers in patients undergoing hemodialysis, may be associated with sympathetic overactivity. The L/N-type calcium channel blocker, cilnidipine, has been reported to suppress sympathetic nerves activity in vivo. Therefore, we hypothesized that cilnidipine could attenuate intradialytic systolic blood pressure (SBP) elevation. Methods: Fifty-one patients on chronic hemodialysis who had intradialytic-HTN (SBP elevation ≥10 mmHg during hemodialysis) and no fluid overload were prospectively randomized into two groups: control and cilnidipine groups. Cilnidipine group patients took cilnidipine (10 mg/day) for 12 weeks. The primary endpoint was the change in the intradialytic SBP elevation before and after the 12-week intervention. Results: Before the intervention, no differences were observed in age, sex or pre-dialytic SBP (148.5 ± 12.9 vs. 148.3 ± 19.3 mmHg) between the two groups. Intradialytic SBP elevation was unchanged in the control group. Cilnidipine significantly lowered the post-dialytic SBP with an attenuation of the intradialytic SBP elevation from 12.0 ± 15.4 mmHg to 4.8 ± 10.1 mmHg. However, the observed difference in the intradialytic SBP elevation by cilnidipine did not reach statistical significance (group×time interaction effect p = 0.25). Cathecolamine levels were unaffected by the intervention in both groups. Conclusion: Cilnidipine lowers both the pre- and post-dialytic SBP and might attenuate intradialytic SBP elevation. Therefore, cilnidipine may be effective in lowering SBP during HD in patients with intradialytic-HTN. [ABSTRACT FROM AUTHOR]

The gain-of-function variation p.I1157T in C3 was previously identified in 8 patients with atypical hemolytic uremic syndrome (aHUS) at Mie University Hospital. In the present study, we identified another 11 patients with aHUS with this variation, including 10 pediatric patients (onset age: 1-16 years). The variation seems to be geographically concentrated around Mie Prefecture in Japan. Fifteen of the 19 patients with aHUS experienced infection as probable triggering events. All 19 patients had renal dysfunction. Seven patients, including 2 from the previous study and 5 from the present study, were treated with eculizumab, with all showing a good response with hematological normalization. Among the 5 eculizumab-treated patients in the present study, 3 had an ambiguous diagnosis of aHUS due to low-grade hemolysis even with elevated levels of lactate dehydrogenase and bilirubin. In those cases, in-house targeted DNA sequencing identified the C3 p.I1157T variation carriers, which enabled the early initiation of treatment with eculizumab. The present study supports the early introduction of eculizumab in patients with aHUS, especially pediatric patients. [ABSTRACT FROM AUTHOR]

Chest computed tomography (CT) showed bilateral pleural effusions and pericardial fluid and abdominal CT showed several simple cysts in both kidneys without atrophy. Although the details concerning the mechanism underlying the glomerular deposition of type VI collagen are unclear, the diagnosis in the present case was type VI collagen-related nephropathy. Glomerular diseases with organized deposits are classified as amyloidosis, diabetic fibrillosis, fibrillary glomerulopathy, immunotactoid glomerulopathy, fibronectin glomerulopathy, collagenofibrotic glomerulopathy, cryoglobulinemic glomerulonephritis and various advanced kidney diseases [[1]]. [Extracted from the article]