Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
AbstractA two-and-a-half-month-old female infant presented with generalized edema for 10  days. At presentation, she had periorbital puffiness, moderate ascites, and pedal edema. Laboratory investigations revealed serum albumin 1.3 g/dL, spot urine protein to creatinine ratio (Up:Uc) 20.87 mg/mg, total cholesterol 380 mg/dL, and serum creatinine 0.31 mg/dL. Exome sequencing reveale d compound heterozygous variants inLAMA5 gene (NM_005560.6). There was a heterozygous likely pathogenic missense variant in exon 2:LAMA5: c.385C  >  A (depth 195 ×) and another heterozygous pathogenic variant in exon 31:LAMA5: c.3...
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research

Insight into prevalence, etiology, and modalities of pediatric chronic dialysis: a comprehensive nationwide analysis
ConclusionsThis first nationwide study of pediatric chronic dialysis in Saudi Arabia sheds light on the prevalence of children undergoing chronic dialysis and underlying causes of their KF, thereby contributing to our understanding of clinical management considerations. This research serves as a stepping stone for the development of national registries.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information. (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research

Liquid chromatography-tandem mass spectrometry method for mycophenolic acid and its glucuronide determination in saliva samples from children with nephrotic syndrome
CONCLUSIONS: The evaluated LC-MS/MS method has met the validation requirements for saliva MPA and MPAG determination in children with nephrotic syndrome. Further studies are needed to explore plasma-saliva correlations and assess their potential contribution to MPA monitoring.PMID:38485859 | DOI:10.1007/s43440-024-00574-9 (Source: Pharmacological Reports)
Source: Pharmacological Reports - March 15, 2024 Category: Drugs & Pharmacology Authors: Joanna Sobiak Matylda Resztak Weronika Sikora Jacek Zachwieja Danuta Ostalska-Nowicka Source Type: research

Liquid chromatography-tandem mass spectrometry method for mycophenolic acid and its glucuronide determination in saliva samples from children with nephrotic syndrome
CONCLUSIONS: The evaluated LC-MS/MS method has met the validation requirements for saliva MPA and MPAG determination in children with nephrotic syndrome. Further studies are needed to explore plasma-saliva correlations and assess their potential contribution to MPA monitoring.PMID:38485859 | DOI:10.1007/s43440-024-00574-9 (Source: Pharmacological Reports)
Source: Pharmacological Reports - March 15, 2024 Category: Drugs & Pharmacology Authors: Joanna Sobiak Matylda Resztak Weronika Sikora Jacek Zachwieja Danuta Ostalska-Nowicka Source Type: research

Quantitative phenotyping of < em > Nphs1 < /em > knockout mice as a prerequisite for gene replacement studies
Am J Physiol Renal Physiol. 2024 Mar 14. doi: 10.1152/ajprenal.00412.2023. Online ahead of print.ABSTRACTSteroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podoc...
Source: American Journal of Physiology. Renal Physiology - March 14, 2024 Category: Physiology Authors: Florian Buerger Lea M Merz Ken Saida Seyoung Yu Daanya Salmanullah Katharina Lemberg Nils D Mertens Bshara Mansour Caroline M Kolvenbach Kirollos Yousef Alina Braun Gijs A C Franken Nicole Endlich Ronen Schneider Shrilee Shril Friedhelm Hildebrandt Source Type: research

Efficacy and safety of Mahuang Fuzi and Shenzhuo Decoction for treatment of primary membranous nephropathy: a multicenter prospective trial
CONCLUSIONS: This trial establishes the efficacy of MFSD as a treatment modality for membranous nephropathy. MFSD demonstrates a favorable side effect profile, and remission rates are consistent across patients, irrespective of HIST and age categories.PMID:38482580 | DOI:10.1080/0886022X.2024.2320834 (Source: Renal Failure)
Source: Renal Failure - March 14, 2024 Category: Urology & Nephrology Authors: Naiqian Zhang Hanxue Jiang Haoran Dai Shuxian Huang Qihan Zhao Na Zhang Wenbin Liu Zhaocheng Dong Yu Gao Xuan Dong Yuehong Hu Fanyu Hou Hongliang Rui Qingquan Liu Baoli Liu Source Type: research

Quantitative phenotyping of < em > Nphs1 < /em > knockout mice as a prerequisite for gene replacement studies
Am J Physiol Renal Physiol. 2024 Mar 14. doi: 10.1152/ajprenal.00412.2023. Online ahead of print.ABSTRACTSteroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podoc...
Source: Am J Physiol Renal P... - March 14, 2024 Category: Urology & Nephrology Authors: Florian Buerger Lea M Merz Ken Saida Seyoung Yu Daanya Salmanullah Katharina Lemberg Nils D Mertens Bshara Mansour Caroline M Kolvenbach Kirollos Yousef Alina Braun Gijs A C Franken Nicole Endlich Ronen Schneider Shrilee Shril Friedhelm Hildebrandt Source Type: research

Quantitative phenotyping of < em > Nphs1 < /em > knockout mice as a prerequisite for gene replacement studies
Am J Physiol Renal Physiol. 2024 Mar 14. doi: 10.1152/ajprenal.00412.2023. Online ahead of print.ABSTRACTSteroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podoc...
Source: American Journal of Physiology. Renal Physiology - March 14, 2024 Category: Physiology Authors: Florian Buerger Lea M Merz Ken Saida Seyoung Yu Daanya Salmanullah Katharina Lemberg Nils D Mertens Bshara Mansour Caroline M Kolvenbach Kirollos Yousef Alina Braun Gijs A C Franken Nicole Endlich Ronen Schneider Shrilee Shril Friedhelm Hildebrandt Source Type: research

Efficacy and safety of Mahuang Fuzi and Shenzhuo Decoction for treatment of primary membranous nephropathy: a multicenter prospective trial
CONCLUSIONS: This trial establishes the efficacy of MFSD as a treatment modality for membranous nephropathy. MFSD demonstrates a favorable side effect profile, and remission rates are consistent across patients, irrespective of HIST and age categories.PMID:38482580 | DOI:10.1080/0886022X.2024.2320834 (Source: Renal Failure)
Source: Renal Failure - March 14, 2024 Category: Urology & Nephrology Authors: Naiqian Zhang Hanxue Jiang Haoran Dai Shuxian Huang Qihan Zhao Na Zhang Wenbin Liu Zhaocheng Dong Yu Gao Xuan Dong Yuehong Hu Fanyu Hou Hongliang Rui Qingquan Liu Baoli Liu Source Type: research

Quantitative phenotyping of < em > Nphs1 < /em > knockout mice as a prerequisite for gene replacement studies
Am J Physiol Renal Physiol. 2024 Mar 14. doi: 10.1152/ajprenal.00412.2023. Online ahead of print.ABSTRACTSteroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podoc...
Source: Am J Physiol Renal P... - March 14, 2024 Category: Urology & Nephrology Authors: Florian Buerger Lea M Merz Ken Saida Seyoung Yu Daanya Salmanullah Katharina Lemberg Nils D Mertens Bshara Mansour Caroline M Kolvenbach Kirollos Yousef Alina Braun Gijs A C Franken Nicole Endlich Ronen Schneider Shrilee Shril Friedhelm Hildebrandt Source Type: research

Quantitative phenotyping of < em > Nphs1 < /em > knockout mice as a prerequisite for gene replacement studies
Am J Physiol Renal Physiol. 2024 Mar 14. doi: 10.1152/ajprenal.00412.2023. Online ahead of print.ABSTRACTSteroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podoc...
Source: American Journal of Physiology. Renal Physiology - March 14, 2024 Category: Physiology Authors: Florian Buerger Lea M Merz Ken Saida Seyoung Yu Daanya Salmanullah Katharina Lemberg Nils D Mertens Bshara Mansour Caroline M Kolvenbach Kirollos Yousef Alina Braun Gijs A C Franken Nicole Endlich Ronen Schneider Shrilee Shril Friedhelm Hildebrandt Source Type: research

Quantitative phenotyping of < em > Nphs1 < /em > knockout mice as a prerequisite for gene replacement studies
Am J Physiol Renal Physiol. 2024 Mar 14. doi: 10.1152/ajprenal.00412.2023. Online ahead of print.ABSTRACTSteroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podoc...
Source: Am J Physiol Renal P... - March 14, 2024 Category: Urology & Nephrology Authors: Florian Buerger Lea M Merz Ken Saida Seyoung Yu Daanya Salmanullah Katharina Lemberg Nils D Mertens Bshara Mansour Caroline M Kolvenbach Kirollos Yousef Alina Braun Gijs A C Franken Nicole Endlich Ronen Schneider Shrilee Shril Friedhelm Hildebrandt Source Type: research

Quantitative phenotyping of < em > Nphs1 < /em > knockout mice as a prerequisite for gene replacement studies
Am J Physiol Renal Physiol. 2024 Mar 14. doi: 10.1152/ajprenal.00412.2023. Online ahead of print.ABSTRACTSteroid-resistant nephrotic (SRNS) syndrome is the second most frequent cause of chronic kidney disease before the age of 25 years. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type (CNS-1) for which, to date, no causative therapy is available. Recently, adeno-associated virus (AAV) vectors targeting the glomerular podoc...
Source: American Journal of Physiology. Renal Physiology - March 14, 2024 Category: Physiology Authors: Florian Buerger Lea M Merz Ken Saida Seyoung Yu Daanya Salmanullah Katharina Lemberg Nils D Mertens Bshara Mansour Caroline M Kolvenbach Kirollos Yousef Alina Braun Gijs A C Franken Nicole Endlich Ronen Schneider Shrilee Shril Friedhelm Hildebrandt Source Type: research

A Case of Insidious Onset of Kimura Disease-associated Immunoglobulin A Nephropathy without Eosinophil Infiltration in the Renal Tissue
In this study, we report a case of KD combined with immunoglobulin A nephropathy that first presented as a mass in the inguinal region, followed by recurrent renal involvement. Previous reports suggested that renal involvement caused by KD was due to direct infiltration of eosinophils; however, in this case, no eosinophil infiltration was found in the renal tissue after renal biopsy. This observation reminds us to approach the case from an immune-related molecular perspective to investigate the exact cause of renal damage due to KD.PMID:38477957 | DOI:10.18502/ijaai.v22i6.14649 (Source: Iranian Journal of Allergy, Asthma and Immunology)
Source: Iranian Journal of Allergy, Asthma and Immunology - March 13, 2024 Category: Allergy & Immunology Authors: Linxin Liu Haoxian Gou Yongfa Liu Shuai Hu Xiaoli Yang Bo Li Source Type: research

A Case of Insidious Onset of Kimura Disease-associated Immunoglobulin A Nephropathy without Eosinophil Infiltration in the Renal Tissue
In this study, we report a case of KD combined with immunoglobulin A nephropathy that first presented as a mass in the inguinal region, followed by recurrent renal involvement. Previous reports suggested that renal involvement caused by KD was due to direct infiltration of eosinophils; however, in this case, no eosinophil infiltration was found in the renal tissue after renal biopsy. This observation reminds us to approach the case from an immune-related molecular perspective to investigate the exact cause of renal damage due to KD.PMID:38477957 | DOI:10.18502/ijaai.v22i6.14649 (Source: Iranian Journal of Allergy, Asthma and Immunology)
Source: Iranian Journal of Allergy, Asthma and Immunology - March 13, 2024 Category: Allergy & Immunology Authors: Linxin Liu Haoxian Gou Yongfa Liu Shuai Hu Xiaoli Yang Bo Li Source Type: research