Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants
ConclusionsThe candidate genes for kidney disorders includeFBLN1,WNT7B,UPK3A,CELSR1, andPLXNB2. This study demonstrates the utility of patient registries for uncovering genetic contributions to rare diseases. Future work should focus on functional studies for these genes to assess their potential pathogenic contribution to the different subsets of kidney disorders.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - January 27, 2024 Category: Urology & Nephrology Source Type: research
TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis
Sci Signal. 2024 Jan 23;17(820):eabo0465. doi: 10.1126/scisignal.abo0465. Epub 2024 Jan 23.ABSTRACTPrimary cilia are enriched in signaling receptors, and defects in their formation or function can induce conditions such as polycystic kidney disease, postaxial hexadactyly, and microphthalmia. Mammalian Hedgehog (Hh) signaling is important in the development of primary cilia, and TMEM216, a transmembrane protein that localizes to the base of cilia, is also implicated in ciliogenesis in zebrafish. Here, we found that Tmem216-deficient mice had impaired Hh signaling and displayed typical ciliopathic phenotypes. These phenomena...
Source: Science Signaling - January 23, 2024 Category: Biomedical Science Authors: Yingying Wang Huili Yao Yu Zhang Ning Mu Tong Lu Zhiyuan Du Yingdi Wu Xiaopeng Li Min Su Ming Shao Xiaoyang Sun Ling Su Xiangguo Liu Source Type: research
Genes, Vol. 15, Pages 91: The Pathophysiology of Inherited Renal Cystic Diseases
Raina
Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome...
Source: Genes - January 11, 2024 Category: Genetics & Stem Cells Authors: Matthew Satariano Shaarav Ghose Rupesh Raina Tags: Review Source Type: research
Comparison between Retroperitoneal Laparoscopic Nephrectomy and Traditional Open Nephrectomy to Treat Polycystic Kidney Disease before Kidney Transplantation
CONCLUSION: Both retroperitoneal laparoscopic nephrectomy and traditional open surgery are feasible to treat huge polycystic nephrectomy. However, patients who undergo retroperitoneal laparoscopic nephrectomy experience higher levels of safety and recover more rapidly.PMID:38192077 | DOI:10.22037/uj.v20i.7826 (Source: Urology Journal)
Source: Urology Journal - January 9, 2024 Category: Urology & Nephrology Authors: Jingcheng Lyu Chun-Kai Du Yichen Zhu Source Type: research
Comparison between Retroperitoneal Laparoscopic Nephrectomy and Traditional Open Nephrectomy to Treat Polycystic Kidney Disease before Kidney Transplantation
CONCLUSION: Both retroperitoneal laparoscopic nephrectomy and traditional open surgery are feasible to treat huge polycystic nephrectomy. However, patients who undergo retroperitoneal laparoscopic nephrectomy experience higher levels of safety and recover more rapidly.PMID:38192077 | DOI:10.22037/uj.v20i.7826 (Source: Urology Journal)
Source: Urology Journal - January 9, 2024 Category: Urology & Nephrology Authors: Jingcheng Lyu Chun-Kai Du Yichen Zhu Source Type: research
PKD1 Truncating Mutations Accelerate eGFR Decline in Autosomal Dominant Polycystic Kidney Disease Patients
CONCLUSION: In longitudinal and survival analyses, patients with PKD1 truncating mutations showed a faster decline in kidney function compared to patients PKD1 non-truncating mutations. Early identification of patients with PKD1 truncating mutations can, at best, inform early clinical interventions or, at least, help suggest aggressive monitoring.PMID:38194940 | DOI:10.1159/000536165 (Source: American Journal of Nephrology)
Source: American Journal of Nephrology - January 9, 2024 Category: Urology & Nephrology Authors: Hamad Ali Barrak Alahmad Sarah R Senum Samia Warsame Yousif Bahbahani Mohamed Abu-Farha Jehad Abubaker Malak Alqaddoumi Fahd Al-Mulla Peter C Harris Source Type: research
Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic kidney: a case report
ConclusionIn most ADPKD patients, bilateral kidneys are similarly affected. Only a few cases of ADPKD with ectopic unilateral multicystic kidney have been reported. It has been observed that the deterioration of their kidney function seemed to be quicker than their age- and sex-matched controls and siblings especially when the ectopic kidney is dysplastic. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - January 9, 2024 Category: General Medicine Source Type: research
Peritoneal Dialysis Care for People with Diabetes, Polycystic Kidney Disease, or Advanced Liver Disease
Clin J Am Soc Nephrol. 2024 Jan 8. doi: 10.2215/CJN.0000000000000420. Online ahead of print.ABSTRACTPeople treated with peritoneal dialysis (PD) often have complicating conditions that require careful management. Three such conditions are reviewed in this article - diabetes mellitus, polycystic kidney disease (PKD) and chronic liver disease. Each of these conditions requires an understanding of both its impact on the delivery of the PD, as well as the impact of the PD on the condition itself. With respect to diabetes, glucose absorption from the dialysate complicates metabolic control, impacts on salt and water management ...
Source: Clinical Journal of the American Society of Nephrology : CJASN - January 8, 2024 Category: Urology & Nephrology Authors: Shailesh Agarwal Laura Gillis Martin Wilkie Source Type: research
Peritoneal Dialysis Care for People with Diabetes, Polycystic Kidney Disease, or Advanced Liver Disease
Clin J Am Soc Nephrol. 2024 Jan 8. doi: 10.2215/CJN.0000000000000420. Online ahead of print.ABSTRACTPeople treated with peritoneal dialysis (PD) often have complicating conditions that require careful management. Three such conditions are reviewed in this article-diabetes mellitus, polycystic kidney disease, and chronic liver disease. Each of these conditions requires an understanding of both its effect on the delivery of the PD and the effect of the PD on the condition itself. In diabetes, glucose absorption from the dialysate complicates metabolic control and affects salt and water management and patient outcome. There i...
Source: Clinical Journal of the American Society of Nephrology : CJASN - January 8, 2024 Category: Urology & Nephrology Authors: Shailesh Agarwal Laura Gillis Martin Wilkie Source Type: research
Kidney organoid models reveal cilium-autophagy metabolic axis as a therapeutic target for PKD both in vitro and in vivo
Cell Stem Cell. 2024 Jan 4;31(1):52-70.e8. doi: 10.1016/j.stem.2023.12.003.ABSTRACTHuman pluripotent stem cell-derived kidney organoids offer unprecedented opportunities for studying polycystic kidney disease (PKD), which still has no effective cure. Here, we developed both in vitro and in vivo organoid models of PKD that manifested tubular injury and aberrant upregulation of renin-angiotensin aldosterone system. Single-cell analysis revealed that a myriad of metabolic changes occurred during cystogenesis, including defective autophagy. Experimental activation of autophagy via ATG5 overexpression or primary cilia ablation ...
Source: Cell Stem Cell - January 5, 2024 Category: Stem Cells Authors: Meng Liu Chao Zhang Ximing Gong Tian Zhang Michelle Mulan Lian Elaine Guo Yan Chew Angelysia Cardilla Keiichiro Suzuki Huamin Wang Yuan Yuan Yan Li Mihir Yogesh Naik Yixuan Wang Bingrui Zhou Wei Ze Soon Emi Aizawa Pin Li Jian Hui Low Moses Tandiono Enriqu Source Type: research
Comprehensive characterization of PKHD1 mutation in human colon cancer
ConclusionsOverall, these findings suggest thatPKHD1 may be a potential biomarker for the prognosis of colon cancer and provide some insight for personalized immunotherapy. (Source: Cancer Medicine)
Source: Cancer Medicine - January 5, 2024 Category: Cancer & Oncology Authors: Lu Han,
Fangming Gong,
Xuxiaochen Wu,
Wanxiangfu Tang,
Hua Bao,
Yue Wang,
Daizhenru Wang,
Yulan Sun,
Peng Li Tags: RESEARCH ARTICLE Source Type: research
GSE223675 Clinical-grade human skin-derived ABCB5+ mesenchymal stromal cells exert modulatory functions on mRNA expression in a cisplatin-induced kidney injury murine model
Contributors : Daniele Christina ; Gretz NobertSeries Type : Expression profiling by high throughput sequencingOrganism : Rattus norvegicusAcute kidney injury (AKI) is characterized by a rapid reduction in renal function and glomerular filtration rate (GFR). The broadly used anti-cancer chemotherapeutic agent cisplatin often induces AKI as an adverse drug side effect. Therapies targeted at the reversal of AKI and its potential progression to chronic kidney disease or end-stage renal disease are currently insufficiently effective. Mesenchymal stromal cells (MSC) possess diverse immunomodulatory properties that confer upon...
Source: GEO: Gene Expression Omnibus - January 4, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Rattus norvegicus Source Type: research
Role of MCP-1 as an inflammatory biomarker in nephropathy
The Monocyte chemoattractant protein-1 (MCP-1), also referred to as chemokine ligand 2 (CCL2), belongs to the extensive chemokine family and serves as a crucial mediator of innate immunity and tissue inflammation. It has a notable impact on inflammatory conditions affecting the kidneys. Upon binding to its receptor, MCP-1 can induce lymphocytes and NK cells’ homing, migration, activation, differentiation, and development while promoting monocytes’ and macrophages’ infiltration, thereby facilitating kidney disease-related inflammation. As a biomarker for kidney disease, MCP-1 has made notable advancements in primary k...
Source: Frontiers in Immunology - January 4, 2024 Category: Allergy & Immunology Source Type: research
Outcomes of BRCA pre-implantation genetic testing according to the parental mutation origin: a cohort study
CONCLUSIONS: BRCA PGT-M cycles performed similarly compared to non-BRCA cycles. Inheritance rate and cycle parameters were not affected by the parental origin of the mutation.PMID:38172815 | PMC:PMC10762833 | DOI:10.1186/s12958-023-01180-9 (Source: Reproductive Biology)
Source: Reproductive Biology - January 3, 2024 Category: Reproduction Medicine Authors: Ilana Weizel Tal Shavit Yulia Shuli Chana Adler Lazarovich Rivka Halevi Tal Ben Ari Shira Yaacobi-Artzi Yaakov Bentov Baruch Feldman Anat Hershko Klement Source Type: research
Metformin reduces decline in the estimated glomerular filtration rate during progression of autosomal dominant polycystic kidney disease: a systematic review and meta-analysis
CONCLUSIONS: Metformin was easily tolerable and safe and substantially reduced the eGFR decline among ADPKD patients. Moreover, although metformin-treated patients were more likely to suffer gastrointestinal adverse events, we observed no discernible difference between the two cohorts.PMID:38164854 | DOI:10.26355/eurrev_202312_34789 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - January 2, 2024 Category: Drugs & Pharmacology Authors: F Yao S-Q Huang X-S Cheng K Li X-L Jiang Source Type: research
