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Curr Med Imaging 2021 Jun 1. Epub 2021 Jun 1.

Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.

Background: Castleman disease (CD) of the kidney is extremely rare. In this study, we presented a case of CD of the left kidney and comprehensively described the findings of computed tomography urography.

Case Presentation: The case involved unusual imaging characteristics of the focal central cystic area. Read More

Compr Physiol 2021 Jun 1;11(3):1-29. Epub 2021 Jun 1.

Department of Biomedical Sciences, University of Lausanne, Lausanne, Switzerland.

The Epithelial Na Channel, ENaC, comprised of 3 subunits (αβγ, or sometimes δβγENaC), plays a critical role in regulating salt and fluid homeostasis in the body. It regulates fluid reabsorption into the blood stream from the kidney to control blood volume and pressure, fluid absorption in the lung to control alveolar fluid clearance at birth and maintenance of normal airway surface liquid throughout life, and fluid absorption in the distal colon and other epithelial tissues. Moreover, recent studies have also revealed a role for sodium movement via ENaC in nonepithelial cells/tissues, such as endothelial cells in blood vessels and neurons. Read More

Curr Opin Nephrol Hypertens 2021 Jul;30(4):437-443

Department of Biomedicine, Physiology, Health, Aarhus University, Aarhus, Denmark.

Purpose Of Review: A key role of cystic fibrosis transmembrane conductance regulator (CFTR) in the kidney has recently been uncovered. This needs to be integrated into the understanding of the developed phenotypes in cystic fibrosis (CF) patients.

Recent Findings: In the beta-intercalated cells of the collecting duct , CFTR functions in very similar terms as established in the exocrine pancreatic duct and both CFTR and SLC26A4 (pendrin) orchestrate regulated HCO3- secretion. Read More

Pancreas 2021 May-Jun 01;50(5):704-709

From the Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University Wexner Medical Center.

Objectives: We hypothesized that hospitalizations in cystic fibrosis (CF) would reflect the development of age-related comorbidities.

Methods: A retrospective analysis was performed using the Nationwide Inpatient Sample (2002-2017). Hospitalizations for which the principal diagnosis was CF were analyzed regarding age at discharge and presence of comorbidities. Read More

Biochem Soc Trans 2021 May 7. Epub 2021 May 7.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle Upon Tyne NE1 3BZ, U.K.

Renal ciliopathies are a heterogenous group of inherited disorders leading to an array of phenotypes that include cystic kidney disease and renal interstitial fibrosis leading to progressive chronic kidney disease and end-stage kidney disease. The renal tubules are lined with epithelial cells that possess primary cilia that project into the lumen and act as sensory and signalling organelles. Mutations in genes encoding ciliary proteins involved in the structure and function of primary cilia cause ciliopathy syndromes and affect many organ systems including the kidney. Read More

Eur J Radiol 2021 Jun 24;139:109734. Epub 2021 Apr 24.

Duke University Health System, Department of Radiology, 2301 Erwin Road, Box 3808, Durham, NC, 27710, United States. Electronic address:

Purpose: Dual-source (DS) CT, dual-energy (DE) field of view (FoV) is limited to the size of the smaller detector array. The purpose was to establish a deep learning-based approach to DE extrapolation by estimating missing image data using data from both tubes to evaluate renal lesions.

Method: A DE extrapolation deep-learning (DEEDL) algorithm had been trained on DECT data of 50 patients using a DSCT with DE-FoV = 33 cm (Somatom Flash). Read More

J Minim Access Surg 2021 Apr 8. Epub 2021 Apr 8.

Department of Urology, All India Institute of Medical Sciences, New Delhi, India.

Renal lymphangiectasia characterised by either unilocular or multilocular cystic lesion in and around the kidney is an uncommon condition. Presentation of these lesions is quite varied, which along with its uncommon occurrence adds to the challenges in the management of this condition. Most of these cases are managed conservatively and very rarely need any intervention. Read More

Int J Mol Sci 2021 Mar 16;22(6). Epub 2021 Mar 16.

Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.

Single-gene defects have been revealed to be the etiologies of many kidney diseases with the recent advances in molecular genetics. Autosomal dominant polycystic kidney disease (ADPKD), as one of the most common inherited kidney diseases, is caused by mutations of PKD1 or PKD2 gene. Due to the complexity of pathophysiology of cyst formation and progression, limited therapeutic options are available. Read More

JCI Insight 2021 Mar 30;6(8). Epub 2021 Mar 30.

Department of Internal Medicine.

Despite the recent launch of tolvaptan, the search for safer polycystic kidney disease (PKD) drugs continues. Ciclopirox (CPX) or its olamine salt (CPX-O) is contained in a number of commercially available antifungal agents. CPX is also reported to possess anticancer activity. Read More

J Am Soc Nephrol 2021 Mar 4. Epub 2021 Mar 4.

Epithelial Systems Biology Laboratory, Systems Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland

Background: The repertoire of protein expression along the renal tubule depends both on regulation of transcription and regulation of alternative splicing that can generate multiple proteins from a single gene.

Methods: A full-length, small-sample RNA-seq protocol profiled transcriptomes for all 14 renal tubule segments microdissected from mouse kidneys.

Results: This study identified >34,000 transcripts, including 3709 that were expressed in a segment-specific manner. Read More

Clin Med Insights Pediatr 2021 5;15:1179556521992354. Epub 2021 Mar 5.

Clinical Genetics Department, Fundación Valle del Lili, Cali, Colombia.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a mutation. Read More

Kidney360 2021 Jan;2(1):167-175

Department of Cell, Developmental, and Integrative Biology, University of Alabama at Birmingham, Birmingham, Alabama.

Interstitial inflammation is an important feature of cystic kidney disease. Renal macrophages are the most well-studied inflammatory cell in the kidney, and their involvement in cyst formation has been reported in different animal models and patients with cystic kidney disease. Originally, it was believed that renal macrophages were maintained from a constant supply of bone marrow-derived circulating monocytes, and could be recruited to the kidney in response to local inflammation. Read More

J Cell Sci 2021 Feb 17;134(4). Epub 2021 Feb 17.

Department of Biochemistry and Molecular Medicine, University of California-Davis, Sacramento, CA 95817, USA

Tensins are a family of focal adhesion proteins consisting of four members in mammals (TNS1, TNS2, TNS3 and TNS4). Their multiple domains and activities contribute to the molecular linkage between the extracellular matrix and cytoskeletal networks, as well as mediating signal transduction pathways, leading to a variety of physiological processes, including cell proliferation, attachment, migration and mechanical sensing in a cell. Tensins are required for maintaining normal tissue structures and functions, especially in the kidney and heart, as well as in muscle regeneration, in animals. Read More

Pediatr Nephrol 2021 Feb 13. Epub 2021 Feb 13.

Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.

Background: Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation. While biallelic coding PMM2 mutations are involved in congenital disorder of glycosylation CDG1A, that particular variant in the promoter of the gene, either in the homozygous state or associated with a mutation in the coding exons of the gene, is thought to restrict the N-glycosylation defect to the kidney and the pancreas. Read More

Saudi Med J 2021 Feb;42(2):205-208

From the Gastroenterology Division, Department of Pediatrics (Alhaffaf, Alqahtani, Alqubaisi, Wali, Alhebbi), from the Department of Medicine (Alrobyan), from the Department of Radiology (Ahmad), and from the Endoscopy Unit, Almutairi, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.

Objectives: To evaluate the demographic data and complications in children who had undergone percutaneous endoscopic gastrostomy (PEG) over 9 years period.

Methods: The demographic data, complications, length of hospital admission related to PEG insertion and follow-up findings of 39 patients who had undergone percutaneous endoscopic gastrostomy using the standard pull-through technique between 2011 and 2020 were examined. The study took place at the Gastroenterology Division, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia RESULTS: The most common indications of feeding with a gastrostomy tube include neurological diseases (n=30, 76. Read More

Nephrol Dial Transplant 2021 Feb 3. Epub 2021 Feb 3.

Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Catalonia, Spain.

Background: Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early-onset CKD is complicated due to the high phenotypic overlap, but genetic testing is a powerful diagnostic tool. We aimed to develop a genetic testing strategy to maximize the diagnostic yield for patients presenting with early-onset CKD and to determine the prevalence of the main causative genes. Read More

Ann Diagn Pathol 2021 Apr 23;51:151707. Epub 2021 Jan 23.

Department of Pathology, Charles University in Prague, Faculty of Medicine in Pilsen and University Hospital Pilsen, Czech Republic. Electronic address:

Paneth-like cells (PLCs) are different from Paneth cells (PCs) and contain Paneth-like granules, which have been reported in non-neoplastic conditions and in neoplasms of various organs. PLCs have been reported in clear cell renal cell carcinoma (CCRCC), but not in non-CCRCC, including acquired cystic disease-associated renal cell carcinoma (ACD-RCC). We analyzed clinicopathological features of 24 acquired cystic disease-associated renal cell carcinoma (ACD-RCC) with PLCs (ACD-RCCP+) and compared with those of 23 ACD-RCCs without PLCs (ACD-RCCP-). Read More

Clin J Am Soc Nephrol 2021 02 26;16(2):241-250. Epub 2021 Jan 26.

Department of Epidemiology and Biostatistics, University of California, San Francisco, California.

Background And Objectives: Women with kidney failure have lower access to kidney transplantation compared with men, but the magnitude of this disparity may not be uniform across all kidney diseases. We hypothesized that the attributed cause of kidney failure may modify the magnitude of the disparities in transplant access by sex.

Design, Setting, Participants, & Measurements: We performed a retrospective cohort study of adults who developed kidney failure between 2005 and 2017 according to the United States Renal Data System. Read More

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2020 Dec;42(6):711-716

Department of Radiology, PUMC Hospital, CAMS and PUMC, Beijing 100730,China.

Objective To investigate the computed tomography(CT)imaging features of IgG4-related kidney disease(IgG4-RKD).Methods The clinicopathological and imaging data of 36 IgG4-RKD patients(including 26 cases of renal parenchyma,10 cases of renal pelvis,24 cases of double kidney or multiple lesions,and 12 cases of single focus)were retrospectively analyzed.Results IgG4-RKD had specific clinicopathological and imaging features. Read More

J Egypt Natl Canc Inst 2021 Jan 7;33(1). Epub 2021 Jan 7.

Department of Radiology, Goa Medical College, Bambolim, Goa, India.

Background: Renal angiomyoadenomatous tumor (RAT) is a recently described rare renal neoplasm with variations in the presentation, gross, and microscopic findings, and having a benign course and good prognosis. It is characterized microscopically by the admixture of three components-epithelial cells arranged in tubules and nests, angiomyomatous stroma, and capillary-sized interconnecting vascular channels in close association with the epithelial cell clusters. Microscopically, these tumors can be confused with clear cell carcinoma, papillary carcinoma, mixed epithelial and stromal tumors, and angiomyolipoma. Read More

Front Physiol 2020 15;11:616167. Epub 2020 Dec 15.

Hunan Key Laboratory of Kidney Disease and Blood Purification, Department of Nephrology, The Second Xiangya Hospital, Central South University, Changsha, China.

: Simple renal cysts (SRCs) are the most common acquired cystic kidney disease, but the relationship between SRCs and renal function has not been clarified in patients with type 2 diabetes mellitus (T2DM). : A retrospective study was conducted to analyze the clinical features of renal cysts and ultrasound data of the kidney in 4,304 patients with T2DM. : The prevalence of SRCs in patients with T2DM was 21. Read More

Cell Stem Cell 2021 04 29;28(4):671-684.e6. Epub 2020 Dec 29.

Murdoch Children's Research Institute, Parkville, Melbourne, 3052 VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, 3052 VIC, Australia; Department of Anatomy and Neuroscience, The University of Melbourne, Melbourne, VIC, Australia. Electronic address:

During development, distinct progenitors contribute to the nephrons versus the ureteric epithelium of the kidney. Indeed, previous human pluripotent stem-cell-derived models of kidney tissue either contain nephrons or pattern specifically to the ureteric epithelium. By re-analyzing the transcriptional distinction between distal nephron and ureteric epithelium in human fetal kidney, we show here that, while existing nephron-containing kidney organoids contain distal nephron epithelium and no ureteric epithelium, this distal nephron segment alone displays significant in vitro plasticity and can adopt a ureteric epithelial tip identity when isolated and cultured in defined conditions. Read More

Epigenetics 2020 Dec 29:1-16. Epub 2020 Dec 29.

Divisions of Pediatric Nephrology and Human Genetics, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.

The epigenetic regulator Dot1, the only known histone H3K79 methyltransferase, has a conserved role in organismal development and homoeostasis. In yeast, is required for telomeric silencing and genomic integrity. In Drosophila, Dot1 () regulates homoeotic gene expression. Read More

Kidney Int Rep 2020 Dec 7;5(12):2341-2350. Epub 2020 Oct 7.

Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy.

Introduction: In humans, heterozygous mutations of hepatocyte nuclear factor 1beta (HNF1B) are responsible for a dominant inherited disease with both renal and extrarenal phenotypes. HNF1B nephropathy is the umbrella term that includes the various kidney phenotypes of the disease, ranging from congenital anomalies of the kidney and urinary tract (CAKUT), to tubular transport abnormalities, to chronic tubulointerstitial and cystic renal disease.

Methods: We describe 7 families containing 13 patients with ascertained HNF1B nephropathy. Read More

Kidney Int Rep 2020 Dec 10;5(12):2146-2159. Epub 2020 Oct 10.

Department of Pediatric Nephrology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, Nijmegen, the Netherlands.

Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation, leading to multi-organ involvement and progressive clinical deterioration. Most mitochondrial cytopathies that cause kidney symptoms are characterized by tubular defects, but glomerular, tubulointerstitial, and cystic diseases have also been described. Mitochondrial cytopathies can result from mitochondrial or nuclear DNA mutations. Read More

Cancers (Basel) 2020 Nov 20;12(11). Epub 2020 Nov 20.

IRCCS San Raffaele Scientific Institute, Molecular Basis of Cystic Kidney Diseases, Division of Genetics and Cell Biology, 20132 Milan, Italy.

NRF2 is a transcription factor that coordinates the antioxidant response in many different tissues, ensuring cytoprotection from endogenous and exogenous stress stimuli. In the kidney, its function is essential in appropriate cellular response to oxidative stress, however its aberrant activation supports progression, metastasis, and resistance to therapies in renal cell carcinoma, similarly to what happens in other nonrenal cancers. While at the moment direct inhibitors of NRF2 are not available, understanding the molecular mechanisms that regulate its hyperactivation in specific tumor types is crucial as it may open new therapeutic perspectives. Read More

J Korean Med Sci 2020 Nov 16;35(44):e364. Epub 2020 Nov 16.

Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

Background: Hearing loss (HL) in children may adversely affect their development. HL is more prevalent in patients with chronic kidney disease (CKD) than in the general population. This study evaluated the prevalence of HL and its underlying diseases in patients with childhood-onset in CKD. Read More

Orbit 2020 Nov 9:1-4. Epub 2020 Nov 9.

Manhattan Eye, Ear and Throat Hospital, Northwell Hospital, New York, NY, USA.

A 47 year-old female with lymphangioleiomyomatosis developed right periorbital pain worsened while chewing, six months prior. Neuroimaging demonstrated a heterogenous inferotemporal right orbital mass extending through the inferior orbital fissure into the temporalis fossa, with flow voids. Given the patient's past medical history, the lesion was presumed to be a perivascular epithelioid cell tumor, a manifestation of lymphangioleiomyomatosis. Read More

Kidney Int 2021 02 28;99(2):405-409. Epub 2020 Oct 28.

Laboratoire des Maladies rénales héréditaires, Institut Imagine, Inserm U1163, Université de Paris, Paris, France; APHP, Néphrologie pédiatrique, Centre de Référence MARHEA, Hôpital universitaire Necker-Enfants malades, Paris, France. Electronic address:

DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both the autosomal dominant polycystic kidney disease protein polycystin-1 and the autosomal dominant tubulointerstitial kidney disease protein uromodulin. Here we show that biallelic pathogenic variations in DNAJB11 lead to a severe fetal disease including enlarged cystic kidneys, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Cysts of the kidney were developed exclusively from uromodulin negative tubular segments. Read More