Search Our Scientific Publications & Authors

J Med Genet 2020 Jul 6. Epub 2020 Jul 6.

Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA

Background: Cilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-known cause of several diseases that affect multiple organ systems including the kidneys, brain, heart, respiratory tract, skeleton and retina. Read More

Kidney Int 2020 Mar 23. Epub 2020 Mar 23.

Department of Nephrology, Hemodialysis and Renal Transplantation, University Hospital, Brest, France; Univ Brest, F-29200 Brest, France; National Institute for Research in Health Science (INSERM) UMR 1078, "Genetics, Genomics and Biotechnologies," Brest, France. Electronic address:

Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a heat-shock protein required for efficient protein folding and trafficking. Here we conducted an international collaborative study to better characterize the DNAJB11-associated phenotype. Read More

J Pediatr Urol 2020 May 29. Epub 2020 May 29.

Katip Celebi University, Faculty of Medicine, Department of Pediatric Nephrology and Rheumatology, Izmir, Turkey.

Objective: Calyceal diverticulum (CD) is rarely diagnosed in children. It mimics other cystic lesions of the kidney and may be very difficult to identify. Displaying the communication of these fluid-filled cavities with the collecting system of the kidney via imaging methods is the key diagnostic method. Read More

J Kidney Cancer VHL 2020 16;7(1):1-4. Epub 2020 Apr 16.

Northern Ontario School of Medicine, Thunder Bay Regional Health Sciences Centre.

Spontaneous retroperitoneal hemorrhage (SRH) is a rare emergency. It is usually encountered in patients on hemodialysis and is associated with high rate of morbidity and mortality. This is a case from the emergency department. Read More

Viral Immunol 2020 Apr 29. Epub 2020 Apr 29.

Interdisciplinary Program in Molecular and Cellular Biology, Ohio University, Athens, Ohio, USA.

End-stage renal disease (ESRD) is described by four primary diagnoses, diabetes, hypertension, glomerulonephritis, and cystic kidney disease, all of which have viruses implicated as causative agents. Enteroviruses, such as coxsackievirus (CV), are a common genus of viruses that have been implicated in both diabetes and cystic kidney disease; however, little is known about how CVs cause kidney injury and ESRD or predispose individuals with a genetic susceptibility to type 1 diabetes (T1D) to kidney injury. This study evaluated kidney injury resulting from coxsackievirus B4 (CVB4) inoculation of non-obese diabetic (NOD) mice to glean a better understanding of how viral exposure may predispose individuals with a genetic susceptibility to T1D to kidney injury. Read More

Cells 2020 Apr 8;9(4). Epub 2020 Apr 8.

Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, 01-813 Warsaw, Poland.

Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal transduction. The impaired functioning of primary cilia leads to formation of cysts which in turn contribute to development of diverse renal diseases, including kidney ciliopathies and renal cancer. Read More

J Am Soc Nephrol 2020 May 1;31(5):1035-1049. Epub 2020 Apr 1.

Growth and Signaling Department, Institut National de la Santé et de la Recherche Médicale (INSERM) U1151, Institute Necker Enfants Malades, Paris, France

Background: The inactivation of the ciliary proteins polycystin 1 or polycystin 2 leads to autosomal dominant polycystic kidney disease (ADPKD). Although signaling by primary cilia and interstitial inflammation both play a critical role in the disease, the reciprocal interactions between immune and tubular cells are not well characterized. The transcription factor STAT3, a component of the cilia proteome that is involved in crosstalk between immune and nonimmune cells in various tissues, has been suggested as a factor fueling ADPKD progression. Read More

J Hum Genet 2020 Jun 16;65(6):541-549. Epub 2020 Mar 16.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

Pathogenic variants of paired box gene 2 (PAX2) cause autosomal-dominant PAX2-related disorder, which includes renal coloboma syndrome (RCS). Patients with PAX2-related disorder present with renal and ophthalmological pathologies, as well as with other abnormalities, including developmental problems and hearing loss. We sequenced PAX2 in 457 patients with congenital anomalies of the kidney and urinary tract or with renal dysfunction of unknown cause and identified 19 different pathogenic variants in 38 patients from 30 families (6. Read More

Front Oncol 2020 14;10:139. Epub 2020 Feb 14.

Department of Surgery, Faculdade De Medicina Do ABC, Santo André, Brazil.

von Hippel-Lindau syndrome (VHLS) is a rare, autosomal dominant genetic disease with high penetrance and variable phenotypic expression caused by variants in the gene. VHLS is associated with the presence of vascular tumors, often hemangioblastoma of the central nervous system, retina, or spinal cord and, less frequently, pancreatic cystic neoplasm, pancreatic neuroendocrine tumor, clear cell carcinoma of the kidney, endolymphatic sac tumor, pheochromocytoma, and paraganglioma. The authors report a case of a patient with VHLS with a rare pathogenic variant in the gene and with an optic nerve hemangioblastoma, a rare phenotypic expression. Read More

Indian J Pediatr 2020 Feb 13. Epub 2020 Feb 13.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS). It is realized now that genetic disorders contribute to about 30% of chronic renal diseases in children, and significantly to many other kidney disorders. Read More

Praxis (Bern 1994) 2020 Feb;109(2):71-77

Ultrasound Learning Center (ULC) der European Federation of Ultrasound in Medicine and Biology (EFSUMB) am Institut für Allgemeine Innere Medizin und Nephrologie, Klinik Hirslanden, Zürich.

CME Sonography 89: Differential Diagnosis of Kidney Masses Cystic and solid renal lesions are common in ultrasound diagnostics. The solid pseudotumor of the kidney, the so-called renal parenchymal cone, is found in up to 50 % of patients. Pathologically-anatomically it is either a hypertrophy of the column of Bertini or the entire renal lobus, which is located in the renal sinus. Read More

J Nutr 2020 May;150(5):1135-1143

Department of Food and Human Nutritional Sciences, University of Manitoba; and the Canadian Centre for Agri-Food Research in Health and Medicine, St Boniface Hospital Albrechtsen Research Centre, Winnipeg, Manitoba, Canada.

Background: Ex vivo studies suggest that increased renal prostanoids can mediate effects of high-protein (HP) compared with low-protein (LP) diets on normal and diseased kidneys. However, a short-term HP feeding study in normal male rats failed to demonstrate higher renal prostanoids in vivo.

Objectives: The aim of the present study was to investigate whether long-term HP feeding alters renal prostanoids in male and female mice, with and without kidney disease. Read More

PLoS One 2020 28;15(1):e0221914. Epub 2020 Jan 28.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England, United Kingdom.

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other clinical manifestations. Mutations in centrosomal protein 164 kDa (CEP164), also known as NPHP15, have been identified as a cause of NPHP-RC. Here we have utilised the MRC-Wellcome Trust Human Developmental Biology Resource (HDBR) to perform immunohistochemistry studies on human embryonic and foetal tissues to determine the expression patterns of CEP164 during development. Read More

JCI Insight 2020 Feb 27;5(4). Epub 2020 Feb 27.

Department of Anesthesiology and Robert and Arlene Kogod Center on Aging.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease (ESRD). The treatment options for ADPKD are limited. We observed an upregulation in several IGF-1 pathway genes in the kidney of Pkd1RC/RC mice, a model of ADPKD. Read More

CEN Case Rep 2020 May 27;9(2):182-185. Epub 2020 Jan 27.

Hartford Hospital Transplant and Comprehensive Liver Center, 85 Seymour Street, Suite 320, Hartford, CT, 06106, USA.

Spontaneous native kidney rupture (SNKR) is a rare occurrence, commonly associated with underlying renal tumors or acquired renal cystic disease in both the kidney transplant (KT) and non-KT populations. Herein, we present a 65-year-old African American man who experienced a non-malignant SNKR 6 days after a deceased donor KT and underwent emergent native nephrectomy. The patient's hospital course was complicated by thrombocytopenia and refractory hypertension. Read More

Neurology 2020 02 22;94(8):337-338. Epub 2020 Jan 22.

From the Tourette Syndrome Center of Excellence (K.A.C.), Division of Child Neurology, and Department of Pediatrics, UMKC School of Medicine, Children's Mercy, Kansas City, MO; and Divisions of Developmental Medicine and Genetic Medicine, (D.D.), University of Washington, Seattle Children's Hospital.

Neurology 2020 02 22;94(8):e797-e801. Epub 2020 Jan 22.

From the Neurogenetics Unit (S.N., M.G., E.M.V.), IRCCS Fondazione Santa Lucia, Rome; Department of Medicine and Surgery (S.N.), University of Salerno; National Center for Disease Prevention and Health Promotion (I.B., N.V.), National Institute of Health, Rome; Department of Molecular Medicine (M.G., A.C., V.S., E.M.V.), University of Pavia; IRCCS Stella Maris Foundation (R. Battini); Department of Clinical and Experimental Medicine (R. Battini), University of Pisa; Laboratory of Molecular Medicine (E.B., M.N., G.Z.), Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, and Laboratory of Medical Genetics (A.M.), IRCCS Bambino Gesù Children's Hospital, Rome; and Neuropsychiatry and Neurorehabilitation Unit (R. Borgatti, R.R.), Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

Objective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.

Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available. Read More

Case Rep Surg 2019 16;2019:6969232. Epub 2019 Dec 16.

Department of General Surgery, Al-Assad University Hospital, Damascus, Syria.

Cystic echinococcosis is a parasitic disease caused by The liver and lungs are the most commonly infected organs. We present the first-of-a-kind case of laparoscopic excision of 8 hydatid cysts, of which seven were in the liver and one was in the kidney of a 40-year-old patient. The patient presented with fatigue and fever and a one-year history of vague abdominal pain. Read More

Ann Transl Med 2019 Nov;7(22):699

Kidney Disease Center, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China.

Angiotensinogen (AGT) is an essential member of the renin-angiotensin system (RAS); this system regulates blood pressure and affects the physiological function of the kidney. Studies found that mutations of the human AGT gene are involved in diseases such as recessive renal tubular dysgenesis (RTD) and essential hypertension (EHT). Here, we report a 29-year-old male Chinese with essential hypertension and cystic kidney disease. Read More

Am J Forensic Med Pathol 2020 Mar;41(1):56-59

From the Department of Forensic Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kamigyo-ku, Kyoto.

Postmortem personal identification in forensic science is performed using various methods. However, severely burnt bodies are hard to identify using odontological or skeletal features because of carbonization, and sometimes DNA profiling is impracticable because of the unavailability of the relatives. We present a case of a burn victim found after a house fire. Read More

Cell Signal 2020 May 24;69:109519. Epub 2019 Dec 24.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

Epithelial cells lining the ducts and tubules of the kidney nephron and collecting duct have a single non-motile cilium projecting from their surface into the lumen of the tubule. These organelles were long considered vestigial remnants left as a result of evolution from a ciliated ancestor, but we now recognize them as critical sensory antennae. In the kidney, the polycystins and fibrocystin, products of the major human polycystic kidney disease genes, localize to this organelle. Read More

Cell Signal 2020 Apr 24;68:109518. Epub 2019 Dec 24.

Division of Renal Diseases and Hypertension, Univ. of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:

Apoptosis in the cystic epithelium is observed in most rodent models of polycystic kidney disease (PKD) and in human autosomal dominant PKD (ADPKD). Apoptosis inhibition decreases cyst growth, whereas induction of apoptosis in the kidney of Bcl-2 deficient mice increases proliferation of the tubular epithelium and subsequent cyst formation. However, alternative evidence indicates that both induction of apoptosis as well as increased overall rates of apoptosis are associated with decreased cyst growth. Read More

Hum Pathol 2020 Mar 17;97:1-7. Epub 2019 Dec 17.

Department of Pathology, Northwestern University, Chicago, IL 60611. Electronic address:

Nonfunctioning kidneys secondary to various etiologies display different histopathological features. Studies focused on incidence and types of renal neoplasms using the new World Health Organization and International Society of Urological Pathology classification system in various types of nonfunctioning kidneys are very limited. We identified 311 nephrectomies of nonfunctioning kidneys and categorized them into 5 categories: acquired cystic kidney disease (ACKD, n = 61); end-stage renal disease, nonspecific (ESRD, n = 63); adult polycystic kidney disease (APKD, n = 49); failed transplant kidney (FTK, n = 96); and those caused by obstructive conditions in the kidney (OCK, n = 42). Read More

Clin Nucl Med 2020 Feb;45(2):168-169

Department of Nuclear Medicine, Zigong First People's Hospital, Zigong, Sichuan, People's Republic of China.

Bone scintigraphy is often utilized to detect the osseous etiology of lower back pain. Here we report a 70-year-old man with lower back pain who was referred a Tc-MDP bone scan to identify possible vertebral compression fracture. The images did not detect any osseous lesion. Read More

Nephrol Dial Transplant 2019 Nov 18. Epub 2019 Nov 18.

Internal Medicine, University of Iowa, Iowa City, IA, USA.

Background: The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs diagnosis and facilitates management of kidney disease patients.

Methods: We developed a comprehensive genetic testing panel (KidneySeq) to evaluate patients with various phenotypes including cystic diseases, congenital anomalies of the kidney and urinary tract (CAKUT), tubulointerstitial diseases, transport disorders and glomerular diseases. Read More

J Comput Assist Tomogr 2019 Nov/Dec;43(6):852-856

From the Division of Abdominal Imaging, and Division of Cardiovascular Imaging, Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC.

Objective: The objective of this study was to assess renal lesions measuring less than 20 Hounsfield units (HU) on noncontrast computed tomography (NCT).

Methods: Twenty-one (18.1%) of 116 consecutive pathologically proven renal cell carcinomas measured less than 20 HU on NCT and were compared with 40 confirmed benign cysts also measuring less than 20 HU. Read More

J Biol Regul Homeost Agents 2019 Sep-Oct;33(5 Suppl. 1):87-89

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatrics, University of Messina, Policlinico "G. Martino" Messina, Italy.

End-stage renal diseases requiring chronic dialysis are rare in childhood and adolescence, but they are associated with high mortality and impaired quality of life (1, 2). The most common disease that causes chronic kidney disease (CKD) is primary glomerular disease (GD), followed by congenital abnormalities of the kidney and urinary tract, cystic, hereditary or congenital disorders and, more rarely, secondary GD. However, patients with secondary GD, urologic disorders, and metabolic diseases have greater mortality risk than patients with primary GD (3). Read More

Curr Urol Rep 2019 Oct 17;20(11):73. Epub 2019 Oct 17.

Department of Radiology, University of Wisconsin School of Medicine and Public Health, 600 Highland Ave, Madison, WI, 53792, USA.

Purpose Of Review: In recent years, there has been renewed interest in the use of contrast-enhanced ultrasound (CEUS) in abdominal imaging and intervention. The goal of this article is to review the practical applications of CEUS in the kidney, including renal mass characterization, treatment monitoring during and after percutaneous ablation, and biopsy guidance.

Recent Findings: Current evidence suggests that CEUS allows accurate differentiation of solid and cystic renal masses and is an acceptable alternative to either computed tomography (CT) or magnetic resonance imaging (MRI) for characterization of indeterminate renal masses. Read More

Can Assoc Radiol J 2019 Nov 17;70(4):424-433. Epub 2019 Sep 17.

Department of Medical Imaging, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada. Electronic address:

Purpose: To review the computed tomography and magnetic resonance imaging manifestations of acute and chronic renal infections that may mimic malignancy and to provide useful tips to establish an imaging diagnosis.

Conclusion: Acute and chronic bacterial pyelonephritis are usually readily diagnosed clinically and on imaging when the diagnosis is suspected based upon clinical presentation. When unsuspected, focal, extensive or mass-like, acute and chronic bacterial pyelonephritis may mimic infiltrative tumours such as urothelial cell carcinoma (UCC), lymphoma, and metastatic disease. Read More

Neurology 2019 09;93(11):e1125-e1126

From the Movement Disorder and Neuromodulation Unit (F.B., Y.P., A.A.K., C.G.), Department of Neurology (F.O.), Charité-Universitätsmedizin Berlin; and Berlin Institute of Health (F.B.), Germany.

Am J Physiol Renal Physiol 2019 11 28;317(5):F1201-F1210. Epub 2019 Aug 28.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, National Jewish Health, Denver, Colorado.

Tuberous sclerosis complex 2 (TSC2), or tuberin, is a pivotal regulator of the mechanistic target of rapamycin signaling pathway that controls cell survival, proliferation, growth, and migration. Loss of function manifests in organ-specific consequences, the mechanisms of which remain incompletely understood. Recent single cell analysis of the kidney has identified ATP-binding cassette G2 (Abcg2) expression in renal proximal tubules of adult mice as well as a in a novel cell population. Read More

Medicine (Baltimore) 2019 Aug;98(34):e16537

College of Medical Imaging, Dalian Medical University.

Rationale: Primary renal epithelioid hemangioendothelioma (EH) is a rare vascular tumor with intermediate biologic behavior and metastatic potential, and it is extremely rare and has only 4 cases in the current literatures.

Patient Concerns: We reported a 30-year-old woman who had a 3-month history of gross hematuria and aggravated for half a month. The imaging examination showed a cystic lesion in the mid pole of the left kidney pelvicaliceal. Read More

J Dev Orig Health Dis 2020 02 15;11(1):78-85. Epub 2019 Aug 15.

Department of Pediatrics, IWK Health Centre - Dalhousie University, 5850 University Ave, Halifax, NS, B3K 6R8, Canada.

Several life-threatening diseases of the kidney have their origins in mutational events that occur during embryonic development. In this study, we investigate the role of the Wolffian duct (WD), the earliest embryonic epithelial progenitor of renal tubules, in the etiology of autosomal dominant polycystic kidney disease (ADPKD). ADPKD is associated with a germline mutation of one of the two Pkd1 alleles. Read More

Acta Clin Belg 2019 Aug 10:1-9. Epub 2019 Aug 10.

a Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax , Sfax , Tunisia.

: Juvenile nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney. It represents the most frequent genetic cause of chronic renal failure in children. : we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification (MLPA) and secondly multiplex PCR. Read More

Methods Cell Biol 2019 17;153:205-229. Epub 2019 May 17.

Department of Anatomy and Cell Biology, The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, KS, United States. Electronic address:

Primary cilia are singular, sensory organelles that extend from the plasma membrane of most quiescent mammalian cells. These slender, microtubule-based organelles receive and transduce extracellular cues and regulate signaling pathways. Primary cilia are critical to the development and function of many tissue types, and mutation of ciliary genes causes multi-system disorders, termed ciliopathies. Read More

Methods Cell Biol 2019 13;153:1-23. Epub 2019 Jun 13.

Departments of Internal Medicine and Molecular and Integrative Physiology, and The Jared Grantham Kidney Institute, University of Kansas Medical Center, Kansas City, KS, United States.

Autosomal dominant polycystic kidney (ADPKD) is a common genetic disorder characterized by the presence of numerous fluid-filled cysts that lead to a progressive decline in renal function. Cystic tissues and primary cyst epithelial cells obtained from discarded human ADPKD kidneys provide unique biomaterials for the investigation of cellular mechanisms involved in cyst growth and changes in the microenvironment adjacent to the cysts. ADPKD cells have been used to develop straightforward in vitro cell model assays to study events down-stream of the mutant proteins in carefully controlled experimental conditions, test specific hypotheses, and evaluate the cellular response to potential therapeutic drugs. Read More

Urology 2019 Nov 24;133:e11-e12. Epub 2019 Jul 24.

Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh. India. Electronic address:

Hydatid disease or echinococcosis is a zoonotic disease caused by cestode Echinococcus granulosus. In humans, isolated renal involvement or primary renal hydatid cyst of the kidney is rare and accounts for about 1%-5% of all the cases of hydatid cyst. Isolated renal hydatid cyst can mimic cystic renal tumor both clinically and radiologically. Read More

Prenat Diagn 2019 08 5;39(9):679-692. Epub 2019 Aug 5.

Department of Obstetrics and Gynecology, DRAFT, Division of Maternal Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are responsible for 40% to 50% of pediatric and 7% of adult end-stage renal disease. Pathogenic variants in genes causing CAKUT include monogenic diseases such as polycystic kidney disease and ciliopathies, as well as syndromes that include isolated kidney disease in conjunction with other abnormalities. Read More

J Am Soc Nephrol 2019 10 23;30(10):1841-1856. Epub 2019 Jul 23.

Departments of Cell, Developmental, and Integrative Biology,

Background: Mutations affecting cilia proteins have an established role in renal cyst formation. In mice, the rate of cystogenesis is influenced by the age at which cilia dysfunction occurs and whether the kidney has been injured. Disruption of cilia function before postnatal day 12-14 results in rapid cyst formation; however, cyst formation is slower when cilia dysfunction is induced after postnatal day 14. Read More

J Helminthol 2019 Jul 23;94:e64. Epub 2019 Jul 23.

Cellular and Molecular Research Center, Birjand University of Medical Sciences, Birjand, Iran.

Despite several studies conducted to determine the genotypes of cystic echinococcosis (CE) agents in humans and other intermediate hosts, the relationship between parasite genotype and clinical presentation of hydatidosis is yet to be well defined. The aim of this study was to compare the genotypes/haplotypes of CE agents of human extra-hepatopulmonary hydatid cysts and common hydatid cysts of the liver. A comparative analysis was carried out between partial cox1 sequences of ten extra-hepatopulmonary hydatid cysts, two liver cysts and reliable sequences from the GenBank database. Read More

Clin Genet 2019 11 25;96(5):402-410. Epub 2019 Jul 25.

Department of Nephrology, Children's Hospital of Fudan University, National Pediatric Medical Center of China, Shanghai, China.

To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). Genetic diagnosis was confirmed in 42.1% of our cohort of 1001 pediatric patients with clinical suspicion of a genetic renal disease. Read More

Hum Genet 2019 Oct 22;138(10):1105-1115. Epub 2019 Jun 22.

Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33-34) has been implicated in vesicoureteral reflux (VUR), but mutations in COL4A1 have not been reported in CAKUT. We hypothesized that COL4A1 mutations cause CAKUT in humans. Read More

Radiology 2019 08 18;292(2):475-488. Epub 2019 Jun 18.

From the Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass (S.G.S., A.B.S.); Disease-Focused Panel on Renal Cell Carcinoma, Society of Abdominal Radiology, Houston, Tex (S.G.S., I.P., N.M.H., N.S., A.D.S., E.M.R., A.B.S., N.E.C., S.S.R., S.A.W., S.D.K., Z.J.W., H.C., M.S.D.); Department of Radiology, University of Texas Southwestern Medical Center, Dallas, Tex (I.P.); Departments of Radiology and Urology, Michigan Medicine, University of Michigan, 1500 E Medical Center Dr, B2-A209A, Ann Arbor, MI 48109 (J.H.E., N.E.C., S.D.K., M.S.D.); Department of Radiology, New York University Langone Medical Center, New York, NY (N.M.H., H.C.); Department of Radiology, University of Ottawa, Ottawa, Canada (N.S.); Department of Radiology, University of Alabama School of Medicine, Birmingham, Ala (A.D.S.); Imaging Institute and Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, Ohio (E.M.R.); Department of Radiology, David Geffen School of Medicine, UCLA Center for the Health Sciences, Los Angeles, Calif (S.S.R.); Department of Radiology, University of Wisconsin Hospital and Clinics, Madison, Wis (S.A.W.); and Department of Radiology, UCSF Medical Center, San Francisco, Calif (Z.J.W.).

Cystic renal cell carcinoma (RCC) is almost certainly overdiagnosed and overtreated. Efforts to diagnose and treat RCC at a curable stage result in many benign neoplasms and indolent cancers being resected without clear benefit. This is especially true for cystic masses, which compared with solid masses are more likely to be benign and, when malignant, less aggressive. Read More

Res Rep Urol 2019 21;11:143-148. Epub 2019 May 21.

Urology Department, Faculty of Medicine, Universitas Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Extrarenal calyces (ERCs) are a very rare urological anomaly, especially when concomitantly presenting with ureteropelvic junction obstruction (UPJO). Surgical intervention is often necessary in ERCs associated with UPJO, with dismembered pyeloplasty being the most commonly utilized technique. We present a case of UPJO-associated ERCs in which renal pelvis reconstruction using calyx unification was selected as the treatment technique. Read More

BMJ Case Rep 2019 May 30;12(5). Epub 2019 May 30.

Radiology Department, San Fernando General Hospital, San Fernando, Trinidad and Tobago.

Solid fetal renal masses are a rare finding on antenatal ultrasound, with hydronephrosis and cystic disease of the kidney usually being the most common causes for fetal renal enlargement. Herein we report a case of a solid fetal renal mass which was detected on third trimester antenatal ultrasound scanning. This renal mass was evaluated by MRI in the postnatal period and diagnosis confirmed by histological analysis, after surgical excision. Read More

Clin Exp Nephrol 2019 Sep 27;23(9):1119-1129. Epub 2019 May 27.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

Background: Hepatocyte nuclear factor 1β (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes related to congenital anomalies of the kidney and urinary tract (CAKUT) or Bartter-like electrolyte abnormalities can be caused by HNF1B variants. In addition, 17q12 deletion syndrome presents with multi-system disorders, as well as RCAD. Read More

Am J Physiol Renal Physiol 2019 08 15;317(2):F343-F360. Epub 2019 May 15.

Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas.

Polycystic kidney disease (PKD) is characterized by slowly expanding renal cysts that damage the kidney, typically resulting in renal failure by the fifth decade. The most common cause of death in these patients, however, is cardiovascular disease. Expanding cysts in PKD induce chronic kidney injury that is accompanied by immune cell infiltration, including macrophages, which we and others have shown can promote disease progression in PKD mouse models. Read More

Physiol Rep 2019 05;7(9):e14092

Department of Veterinary Pharmacology, University of Miyazaki, Miyazaki, Japan.

The DBA/2-FG pcy (pcy) mouse is a model of human nephronophthisis, a recessive cystic kidney disease. Renal expression of aquaporin-2 (AQP2), a water channel protein, has been shown to be altered in pcy mice. However, the relationship between the renal expression and its release in urinary extracellular vesicles (uEV-AQP2), which account for most urinary AQP2, in pcy mice has remained largely unknown. Read More

Clin Nephrol 2019 Jun;91(6):370-379

Aims: Endothelin-1 (ET-1) is associated with the pathophysiology of autosomal dominant polycystic kidney disease (ADPKD) via cyst progression. Elevated concentrations of ET-1 in ADPKD correlate with many phenotypic changes in the kidney such as renal cyst development, interstitial fibrosis, and glomerulosclerosis. In addition, an imbalance between renal ET and ET receptors possibly leads to more severe disease progression. Read More