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Objectives: Immunoglobulin A vasculitis/Henoch–Schönlein purpura (IgAV/HSP) is a major cause of vasculitis in children. It is often accompanied by nephritis (HSPN) and could progress to chronic kidney disease. Galactose‐deficient IgA1 was recently reported to be involved in the pathogenesis of HSPN, for which immunosuppressive drugs are considered key treatment. However, the involvement of immune cells in the development of HSPN remains unclear. Methods: We compared gene expressions of peripheral blood mononuclear cells (PBMCs) among healthy controls (n = 10), IgAV/HSP patients (n = 21) and HSPN patients (n = 8), which required nephritis development within 3 months of IgAV/HSP onset. Immunohistochemistry analysis and flow cytometry were performed to assess renal biopsy specimens and PBMCs, respectively. Serum CX3CL1 levels were measured by ELISA. Results: GNLY and GZMB expressions increased in HSPN patients, consistent with increased number of glomerular granulysin‐ and/or granzyme B‐positive cells demonstrated by immunohistochemistry analysis. Additionally, circulating cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells were activated with the up‐regulated surface expressions of human leucocyte antigen DR (HLA‐DR) and CX3CR1 in HSPN patients with severe proteinuria. Renal biopsies demonstrated increased number of CD8+ cells and/or CD56+ cells and up‐regulated expression of glomerular CX3CL1, a specific ligand for CX3CR1, along with increased serum CX3CL1 level. Conclusion: Activated CTLs and NK cells play roles in the development of nephritis in IgAV/HSP patients and can be used as novel biomarkers for HSPN. [ABSTRACT FROM AUTHOR]

Aim: The target Geriatric Nutritional Risk Index (GNRI) for patients on chronic maintenance hemodialysis is unclear. We aimed to determine the relationship between the GNRI and independent walking ability in such patients. Methods: In the present retrospective cohort study, 90 patients receiving chronic maintenance hemodialysis were included. Logistic regression analyses were carried out to evaluate the relationship between the GNRI and independent walking ability. Receiver operating characteristic curve analysis was carried out to determine the cut‐off GNRI for predicting independent walking ability. Results: Multivariate logistic regression analysis showed significant differences in age (odds ratio [OR] 0.8, 95% confidence interval [CI] 0.6–0.9), creatinine generation rate percentage (OR 1.1, 95% CI 1.0–1.2), GNRI (OR 1.4, 95% CI 1.1–1.8; P < 0.01) and urea removal rate (OR 0.3, 95% CI 0.1–0.9; P < 0.05). The cut‐off GNRI for independent walking ability was 86.7 (area under the curve 0.80, sensitivity 92.1%, specificity 66.7%, positive hit ratio 86.6%, negative hit ratio 78.3%). The factors correlated with survival in the univariate analysis were the GNRI, equilibrated Kt/V, urea removal rate, clear space rate, salt intake amount (P < 0.01), number of days of hospitalization and %creatinine generation rate (P < 0.05). The Cox proportional hazard regression model showed an OR of 0.77 (95% CI 0.32–1.8) at a GNRI <86/GNRI ≥86. In the multivariate survival analysis, we observed no significant differences in any of the factors. Conclusions: GNRI was correlated with walking ability, which indicated that GNRI might predict future walking ability; also, a GNRI of 87 might be the target for maintaining walking ability. Geriatr Gerontol Int 2018; 18: 1556–1561. [ABSTRACT FROM AUTHOR]

Background: Recurrence of SRNS is a major challenge in KT. Several clinical factors, including initial steroid sensitivity, have been associated with increased post‐transplant SRNS recurrence risk. However, conflicting data have been reported, possibly due to the heterogeneous pathophysiology of SRNS and the lack of genetic testing of SRNS patients. Furthermore, the response to immunosuppressive therapies has not been evaluated. Methods: Seventy patients aged 1–15 years at SRNS onset who underwent KT between 2002 and 2018 were enrolled. Patients with secondary, familial, syndromic, and genetic forms of SRNS and those who were not treated with steroid were excluded. This study aimed to assess the risk factors for post‐transplant recurrence, including treatment responses to initial steroid therapy and additional therapies with immunosuppressive agents, rituximab, plasmapheresis, and/or LDL‐A. Results: Data from 36 kidney transplant recipients were analyzed. Twenty‐two (61%) patients experienced post‐transplant SRNS recurrence, while 14 patients did not. The proportion of patients who achieved complete or partial remission with initial steroid therapy and/or additional therapies with immunosuppressive agents, rituximab, plasmapheresis, and/or LDL‐A was significantly higher in the SRNS recurrence group (19/22, 86%) than in the group without SRNS recurrence (6/14, 43%; p =.01). Conclusion: This study suggests that the response to steroid treatment, other immunosuppressive agents, rituximab, plasmapheresis, and/or LDL‐A may predict post‐transplant SRNS recurrence. [ABSTRACT FROM AUTHOR]

Background: Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐1 subunit of calcium channel. Few reports have documented the non‐neuromuscular phenotypes of HypoPP. Methods: The proband is a Japanese woman who developed HypoPP at 6 years of age. An excessive insulin secretion with the oral glucose tolerance test rationalized that she had experienced frequent attacks of paralysis on high‐carbohydrate diets. Results: Voglibose and acetazolamide effectively controlled her paralytic episodes. Her 8‐year‐old son and 2‐year‐old daughter started showing the paralytic symptoms from 4 and 2 years of age, respectively. Laboratory tests revealed high concentrations of creatinine kinase in serum and elevated renin activities in plasma of these children. The targeted sequencing confirmed that these three patients had an identical heterozygous mutation (p.V876E) in CACNA1S. Conclusion: Our data indicate that the p.V876E mutation in CACNA1S contributes to the early onset of neuromuscular symptoms and unusual clinical phenotypes of HypoPP. [ABSTRACT FROM AUTHOR]

CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hypodysplasia who developed NODAT presenting with liver dysfunction. The NODAT was initially thought to be steroid and FK related. However, based on the patient's clinical features, including renal hypodysplasia and recurrent elevations of transaminase, screening for an HNF1B mutation was performed. Direct sequencing identified a novel splicing mutation of HNF1B, designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children and HNF1B mutations can cause both renal hypodysplasia and diabetes, HNF1B mutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. NODAT is a serious and major complication of solid organ transplantation and is associated with reduced graft survival. Therefore, for the appropriate management of kidney transplantation, screening for HNF1B mutations should be considered in pediatric patients with transplants caused by CAKUT who develop NODAT and show extra-renal symptoms. [ABSTRACT FROM AUTHOR]