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Clin Nephrol 2019 Apr 16. Epub 2019 Apr 16.

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

J Pharmacol Exp Ther 2019 Apr 1. Epub 2019 Apr 1.

GlaxoSmithKline

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a leading monogenetic cause of end stage renal disease (ESRD) with limited therapeutic repertoire. A targeted drug delivery strategy that directs a small molecule to renal niches around cysts could increase safety margins of agents that slow the progression of ADPKD but are poorly tolerated due to extra-renal toxicity. Herein, we determined whether previously characterized lysine- and glutamic acid-based, megalin-binding peptides can achieve renal specific localization in the Juvenile Cystic Kidney (JCK) mouse model of polycystic kidney disease and if the distribution is altered compared to control mice. Read More

PLoS One 2019 14;14(3):e0207461. Epub 2019 Mar 14.

Department of Clinical Nutrition, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan.

The anti-diuretic hormone arginine vasopressin is thought to be a detrimental factor in polycystic kidney disease (PKD). We previously reported that high water intake (HWI) reduced urine osmolality and urinary arginine vasopressin, improved renal function, and reduced the kidney/body weight ratio in PCK rats, an orthologous model of human PKD. In PKD patients, however, it is reported that HWI increases total kidney volume, urine volume, and urine sodium excretion, which could be a consequence of high salt intake. Read More

Eur Radiol 2019 Feb 26. Epub 2019 Feb 26.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.

Purpose: The aim of this study was to clarify the radiologic and clinical characteristics of multiple unilateral subcapsular cortical hemorrhagic cystic disease of the kidney.

Method: Fourteen patients with unique and characteristic multiple hemorrhagic subcapsular cortical cysts of the kidney, not categorized in any existing renal cystic diseases, were retrospectively reviewed. The clinical information including age, sex, symptom, family history of renal or renal cystic disease, and laboratory data were collected. Read More

Exp Clin Transplant 2019 01;17(Suppl 1):145-147

From the Department of Urology and Kidney Transplantation, Shahid Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Multifocal synchronous renal cell carcinoma in the functioning allograft is a rare disease; there is no consensus regarding its treatment, and few cases have been reported. In isolated masses, some authorities advocate graft nephrectomy, and some recommend partial nephrectomy. To our knowledge, we describe the first experience of nephron-sparing surgery in multifocal synchronous renal cell carcinoma in an allograft with its long-term outcome. Read More

Rev Chil Pediatr 2018 Dec;89(6):741-746

Hospital Luis Calvo Mackenna, Santiago, Chile.

Introduction: Congenital anomalies of the kidney and urinary tract are caused by genetic alterations mostly unknown. Mutations in the gene that codes for hepatocyte nuclear factor 1B (HNF1B) are the most frequently described monogenic causes. Data are unknown in Chile and Latin America. Read More

J Am Soc Nephrol 2019 Feb 17;30(2):201-215. Epub 2019 Jan 17.

Division of Nephrology,

Background: Whole-exome sequencing (WES) finds a CKD-related mutation in approximately 20% of patients presenting with CKD before 25 years of age. Although provision of a molecular diagnosis could have important implications for clinical management, evidence is lacking on the diagnostic yield and clinical utility of WES for pediatric renal transplant recipients.

Methods: To determine the diagnostic yield of WES in pediatric kidney transplant recipients, we recruited 104 patients who had received a transplant at Boston Children's Hospital from 2007 through 2017, performed WES, and analyzed results for likely deleterious variants in approximately 400 genes known to cause CKD. Read More

J Cell Physiol 2019 Jan 15. Epub 2019 Jan 15.

Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran.

Autosomal dominant polycystic kidney disease (ADPKD) is a monogenic inherited renal cystic disease that occurs in different races worldwide. It is characterized by the development of a multitude of renal cysts, which leads to massive enlargement of the kidney and often to renal failure in adulthood. ADPKD is caused by a mutation in PKD1 or PKD2 genes encoding the proteins polycystin-1 and polycystin-2, respectively. Read More

PLoS One 2019 2;14(1):e0209186. Epub 2019 Jan 2.

Centre for Transplant and Renal Research, Westmead Institute for Medical Research, The University of Sydney, Sydney, NSW, Australia.

Polycystic kidney disease (PKD) is the most common inherited cause of kidney failure and currently has limited treatment options. Increasing water intake reduces renal cyst growth in the pck rat (a genetic ortholog of autosomal recessive PKD) but it is not clear if this beneficial effect is present in other models of PKD. In this study, we tested the hypothesis that high water intake (HWI) reduces the progression of cystic renal disease in Lewis polycystic kidney (LPK) rats (a genetic ortholog of human nephronophthisis-9). Read More

J Ultrasound 2019 Jan 1. Epub 2019 Jan 1.

Radiology Department, Federico II University, Naples, Italy.

Pediatric renal cystic diseases include a variety of hereditary or non-hereditary conditions. Numerous classifications exist and new data are continuously published. Ultrasound is the primary technique for evaluating kidneys in children: conventional and high-resolution US allows a detailed visualization of renal parenchyma and of number, size and location of the cysts, hence representing the most important diagnostic imaging technique for the first diagnosis and follow-up of these young patients. Read More

Radiology 2019 Mar 1;290(3):769-782. Epub 2019 Jan 1.

From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).

Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). In children, as opposed to adults, a larger proportion of kidney cysts are due to genetic diseases (eg, HNF1B nephropathy, various ciliopathies, and tuberous sclerosis complex), and fewer patients have simple cysts or acquired cystic kidney disease. The purpose of this consensus statement is to provide clinical guidance on standardization of imaging tests to evaluate kidney cysts in children. Read More

Vet Clin North Am Small Anim Pract 2019 Mar 24;49(2):247-260. Epub 2018 Dec 24.

Department of Pathology and Population Medicine, Midwestern University College of Veterinary Medicine, 5715 West Utopia Road, Glendale, AZ 85308, USA.

Cytologic evaluation of the urinary tract can be diagnostically rewarding in cases of renomegaly or when discrete kidney or bladder masses are identified. Cytology can often help to distinguish between cystic, inflammatory, and neoplastic disorders. Various types of cystic and benign urinary tract lesions, diseases associated with urinary tract inflammation, and the cytologic differences between primary and metastatic neoplasms of the kidney and bladder are described. Read More

N Engl J Med 2019 01 26;380(2):142-151. Epub 2018 Dec 26.

From the Departments of Medicine (E.E.G., M.M., H.M.-R., Y.L., J.Z., J.N., P.K., W.Y.L., A.M., S. Piva, B.H.K., D.C., R.R., D.B., M.D., H.S., X.M., K.M., O.B., J.R., P.C., G.B.A., A.S.B., W.A., D.J.C., R.J.C., G.K.D., M.K.R., S.M., S.S.-C., K.K., A.G.G.) and Pediatrics (N.S.U.), Division of Nephrology, the Departments of Pathology (V.S.A.), Biomedical Informatics (D.A.F., C.W.), and Urology (S.A.), the Institute for Genomic Medicine (S.K., B.C., Z.R., J.B., C.D.M., C.M.M., N.D., D.B.G., A.G.G.) and the Department of Genetics and Development (D.B.G.), Hammer Health Sciences, and the Department of Epidemiology, Mailman School of Public Health (S.M.), Columbia University, New York; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, Innovative Medicines and Early Development (IMED) Biotech Unit, Cambridge, United Kingdom (S.C.-C., S. Petrovski, C.H., J.F., R.M., A.P.); and the Department of Medical Science, Renal Unit, Uppsala University Hospital, Uppsala, Sweden (B.C.F.).

Background: Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally.

Methods: We conducted exome sequencing and diagnostic analysis in two cohorts totaling 3315 patients with chronic kidney disease. We assessed the diagnostic yield and, among the patients for whom detailed clinical data were available, the clinical implications of diagnostic and other medically relevant findings. Read More

Am J Surg Pathol 2019 Feb;43(2):277-287

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN.

The aim of this work was to study small neoplasms of the epithelium of the renal tubules; kidneys from 402 unselected autopsies were sectioned at 1 to 2 mm intervals. All lesions were examined histologically. A total of 232 papillary adenomas were found in 76 patients (19%), ranging from 1 to 35 adenomas/patient (mean: 3, median: 2). Read More

Purinergic Signal 2018 12 11;14(4):485-497. Epub 2018 Nov 11.

Department of Physiology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA.

Polycystic kidney diseases (PKDs) are a group of inherited nephropathies marked by formation of fluid-filled cysts along the nephron. Growing evidence suggests that in the kidney formation of cysts and alteration of cystic electrolyte transport are associated with purinergic signaling. PCK/CrljCrl-Pkhd1pck/CRL (PCK) rat, an established model of autosomal recessive polycystic kidney disease (ARPKD), was used here to test this hypothesis. Read More

J Hum Genet 2019 Jan 6;64(1):3-9. Epub 2018 Nov 6.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often accompanied by polycystic lesion of the kidney and central nervous involvement. OFD1 shows an X-linked recessive inheritance caused by mutation in the OFD1 gene (Xp22.2). Read More

Jpn J Radiol 2019 Feb 30;37(2):165-177. Epub 2018 Oct 30.

Department of Radiology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.

Purpose: To evaluate renal cell carcinoma (RCC) findings in acquired cystic disease of the kidney (ACDK) shown by C-choline and FDG PET/CT, and contrast-enhanced CT.

Materials And Methods: Six ACDK patients with 7 RCCs underwent C-choline and FDG PET/CT, and contrast-enhanced CT before nephrectomy. Findings obtained with 3 imagings were evaluated and sensitivity detecting RCC was compared using 3-point grading scale (negative, equivocal, positive). Read More

Hypertension 2018 Nov;72(5):1172-1179

From the Division of Nephrology and Hypertension, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN (M.-Z.Z., S.W., Y.W., Y.Z., R.C.H.).

COX (cyclooxygenase)-derived prostaglandins regulate renal hemodynamics and salt and water homeostasis. Inhibition of COX activity causes blood pressure elevation. In addition, chronic analgesic abuse can induce renal injury, including papillary necrosis. Read More

Exp Biol Med (Maywood) 2018 09 27;243(13):1092-1098. Epub 2018 Sep 27.

1 Department of Human Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.

Impact Statement: Somatostatin (SST) analogs have been shown to halt cyst growth and progression of autosomal dominant polycystic kidney disease by several clinical trials. However, two studies suggest that the effect of the SST analog octreotide on kidney growth during the first year of treatment is reduced in the subsequent follow-ups and the kidney enlargement resumes. This biphasic change in kidney growth during octreotide treatment may be partially explained by alterations in SSTR2 expression. Read More

Radiol Case Rep 2018 Dec 20;13(6):1224-1227. Epub 2018 Sep 20.

Department of Radiology, Centro Hospitalar de Vila Nova de Gaia, Rua Conceição Fernandes, 1079, 4400 Vila Nova de Gaia, Portugal.

Congenital malformations of the seminal vesicle are uncommon, and most of them are cystic malformations. If an insult occurs during the first trimester of gestation, the embryogenesis of the kidney, ureter, seminal vesicle, and vas deferens could be altered. The mutual embryological origins of the seminal vesicle and ureteral bud from the mesonephric (Wolffian) duct result in association between ipsilateral renal agenesis and seminal vesical cysts. Read More

FASEB J 2019 Feb 24;33(2):2212-2227. Epub 2018 Sep 24.

Beijing Advanced Innovation Center for Food Nutrition and Human Health, College of Food Science and Nutritional Engineering, China Agricultural University, Beijing, China.

Lipotoxicity is the most common cause of severe kidney disease, with few treatment options available today. Precision toxicology can improve detection of subtle intracellular changes in response to exogenous substrates; thus, it facilitates in-depth research on bioactive molecules that may interfere with the onset of certain diseases. In the current study, troxerutin significantly relieved nephrotoxicity, increased endurance, and improved systemic energy metabolism and renal inflammation in OTA-induced nephrotic mice. Read More

Ann Med Surg (Lond) 2018 Oct 31;34:39-42. Epub 2018 Aug 31.

University of Chicago, USA.

Introduction: Adult intussusception is rare, and 90% are due to a lead point secondary to a pathologic condition. Lymphangioma is an uncommon tumor of the lymphatic system and is rarely found within the small bowel. Small bowel lymphangioma causing intussuception in an adult is a rare occurrence, with three very distinct rare pathologies occurring simultaneously. Read More

J Nephrol 2018 Dec 6;31(6):863-879. Epub 2018 Sep 6.

Sant'Anna School of Advanced Studies, Department of Internal Medicine, University of Pisa, Pisa, Italy.

Chronic kidney disease (CKD) includes all clinical features and complications during the progression of various kidney conditions towards end-stage renal disease (ESRD). These conditions include immune and inflammatory disease such as: primary and hepatitis C virus (HCV)-related glomerulonephritis; infectious disease such as pyelonephritis with or without reflux and tuberculosis; vascular disease such as chronic ischemic nephropathy; hereditary and congenital disease such as polycystic disease and congenital cystic dysplasia; metabolic disease including diabetes and hyperuricemia; and systemic disease (collagen disease, vasculitis, myeloma). During the progression of CKD, ultrasound imaging and color Doppler imaging (US-CDI) can differentiate the etiology of the renal damage in only 50-70% of cases. Read More

Rev Peru Med Exp Salud Publica 2018 Apr-Jun;35(2):338-343

Servicio de Clínica Pediátrica, Hospital Nacional Guillermo Almenara Irigoyen. Lima, Perú.

Echinococcosis is a parasitic infection caused by Echinococcus granulosus, which, in its cystic state, forms the socalled hydatid cyst. It presents important morbidity, with possible sequelae related to the location, and high costs due to surgical and prolonged pharmacological treatment. The liver and the lung are the most common anatomical locations, and much rarer are the kidney, spleen, brain, and heart, where the latter represents 0. Read More

Pediatr Nephrol 2019 Jan 23;34(1):155-162. Epub 2018 Aug 23.

Children's Mercy Hospitals and Clinics, Kansas City, Kansas City, MO, USA.

Background: Outcome data for infants on chronic peritoneal dialysis (CPD) is limited and has been based primarily on the analyses of voluntary entry registry data. In contrast, the United States Renal Data Systems (USRDS) collects data on all infants with end-stage kidney disease (ESKD) on chronic dialysis in the USA. We aimed to describe the clinical characteristics of this population and to determine the associated patient mortality. Read More

Case Rep Radiol 2018 9;2018:6242379. Epub 2018 Jul 9.

Department of Pneumology, Moulay Youssef University Hospital Center, Rabat, Morocco.

Hydatic disease has always been the most common in countries where large amount of sheep and cattle is raised, but increased travel and immigration have made this condition a serious worldwide public problem. Cyst hydatid may affect all parts of the human body like the heart, the bone marrow, the eye, the brain, the kidney, and the spermatic cord. Humans can become infested by accidentally ingesting the eggs that are passed in the feces from definitive hosts (usually a canid, such as a wolf, fox, or dog). Read More

J Biol Chem 2018 09 15;293(39):15243-15255. Epub 2018 Aug 15.

From the Department of Medicine, Renal Division, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany,

Nephronophthisis (NPH) is an autosomal recessive renal disease leading to kidney failure in children and young adults. The protein products of the corresponding genes (NPHPs) are localized in primary cilia or their appendages. Only about 70% of affected individuals have a mutation in one of 100 renal ciliopathy genes, and no unifying pathogenic mechanism has been identified. Read More

Medicine (Baltimore) 2018 Aug;97(32):e11805

Department of Pathology, First People's Hospital of Wujiang District, Suzhou.

Rationale: Epithelioid angiomyolipoma (EAML) is a subtype of angiomyolipoma with malignant potential. A diagnosis of malignant EAML of the kidney is based on extrarenal metastasis, and predicting early transformation is difficult. To propose criteria for indicators of malignant transformation, herein we report 2 cases and review 17 cases reported in the literature (2000-2017). Read More

Adv Anat Pathol 2018 Sep;25(5):333-352

Arkana Laboratories, Little Rock, AR.

The kidney is one of the most complicated organs in development and is susceptible to more types of diseases than other organs. The disease spectrum includes developmental and cystic diseases, involvement by systemic diseases, iatrogenic complications, ascending infections and urinary tract obstruction, and neoplastic diseases. The diagnosis of kidney disease is unique involving 2 subspecialties, urologic pathology and renal pathology. Read More

Pediatr Nephrol 2018 Jul 1. Epub 2018 Jul 1.

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Hepatocyte nuclear factor-1β (HNF-1β) is an essential transcription factor that regulates the development and function of epithelia in the kidney, liver, pancreas, and genitourinary tract. Humans who carry HNF1B mutations develop heterogeneous renal abnormalities, including multicystic dysplastic kidneys, glomerulocystic kidney disease, renal agenesis, renal hypoplasia, and renal interstitial fibrosis. In the embryonic kidney, HNF-1β is required for ureteric bud branching, initiation of nephrogenesis, and nephron segmentation. Read More

EMBO J 2018 08 19;37(15). Epub 2018 Jun 19.

Renal Department, University Medical Center, Freiburg, Germany

Polycystic kidney disease (PKD) and other renal ciliopathies are characterized by cysts, inflammation, and fibrosis. Cilia function as signaling centers, but a molecular link to inflammation in the kidney has not been established. Here, we show that cilia in renal epithelia activate chemokine signaling to recruit inflammatory cells. Read More

Tierarztl Prax Ausg K Kleintiere Heimtiere 2018 Jun 13;46(3):187-194. Epub 2018 Jun 13.

An 11-year-old female Sheltie was presented with inappetence and a progressive increase in abdominal distention. Abdominal ultrasound revealed a large cystic mass in the midabdomen and cystic lesions in the right liver lobe and in the caudal pole of the left kidney. Histopathologic examination of the resected tissue revealed a myelolipoma of the spleen, dispersed splenic tissue in the liver and dispersed uterine and salpinx tissues in the kidney. Read More

Acta Neuropathol 2018 Aug 7;136(2):327-337. Epub 2018 Jun 7.

Department of Neuropathology, Institute of Pathology, Heidelberg University Hospital, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany.

Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Read More

BMC Res Notes 2018 Jun 7;11(1):359. Epub 2018 Jun 7.

Department of Pharmaceutical Sciences, University of Tennessee Health Science Center College of Pharmacy, 881 Madison Ave, Rm 442, Memphis, TN, 38163, USA.

Objective: PKD is a genetic disease that is characterized by abnormally proliferative epithelial cells in the kidney and liver. Urinary exosomes have been previously examined as a source of unique proteins that may be used to diagnose and monitor the progression of PKD. Previous studies by our group have shown that AGS3, which is a receptor-independent regulator G-proteins, was markedly upregulated in RTECs during kidney injury including PKD. Read More

J Biol Chem 2018 07 6;293(29):11513-11526. Epub 2018 Jun 6.

From the Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205

Autosomal dominant polycystic kidney disease (ADPKD) is associated with progressive enlargement of cysts, leading to a decline in function and renal failure that cannot be prevented by current treatments. Mutations in and , encoding the polycystin 1 and 2 proteins, induce growth-related pathways, including heat shock proteins, as occurs in some cancers, raising the prospect that pharmacological interventions that target these pathways might alleviate or prevent ADPKD. Here, we demonstrate a role for VX-809, a corrector of cystic fibrosis transmembrane conductance regulator (CFTR), conventionally used to manage cystic fibrosis in reducing renal cyst growth. Read More

Am J Surg Pathol 2018 Sep;42(9):1156-1165

Robert J Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic.

The incidence of renal cell carcinoma (RCC) is known to be higher in patients with end-stage renal disease, including those with acquired cystic kidney disease due to dialysis. Acquired cystic disease (ACD)-associated RCC was recently incorporated into the 2016 WHO Classification of Tumors of the Urinary System and Male Genital Tract as a distinct entity and is reportedly the most common RCC arising in end-stage renal disease. In this study, we sought to further describe clinicopathologic findings in a large series of ACD-RCC, emphasizing histologic features, immunophenotype, clinical outcome, and patterns of disease spread. Read More

Cell Mol Life Sci 2018 Oct 19;75(19):3473-3494. Epub 2018 May 19.

Cell Biology Group, Immunity, Inflammation and Disease Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA.

Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. Read More

J Biol Chem 2018 06 1;293(24):9388-9398. Epub 2018 May 1.

From the Department of Medicine and.

Autosomal dominant polycystic kidney disease (ADPKD) is a debilitating disease that is characterized by the accumulation of numerous fluid-filled cysts in the kidney. ADPKD is primarily caused by mutations in two genes, and Long noncoding RNAs (lncRNA), defined by a length >200 nucleotides and absence of a long ORF, have recently emerged as epigenetic regulators of development and disease; however, their involvement in PKD has not been explored previously. Here, we performed deep RNA-Seq to identify lncRNAs that are dysregulated in two orthologous mouse models of ADPKD (kidney-specific and mutant mice). Read More

Kidney Int 2018 08 21;94(2):259-267. Epub 2018 Apr 21.

Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA. Electronic address:

Pax genes encode developmental regulators that are expressed in a variety of tissues and control critical events in morphogenesis. In the kidney, Pax2 and Pax8 are expressed in embryonic development and in specific renal diseases associated with aberrant epithelial cell proliferation. Prior genetic and cell biological studies suggest that reducing the activity of Pax proteins in renal cancer or in polycystic kidney disease can slow the progression of these conditions. Read More

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec;38(3):63-69

Macedonia Academy of Science and Arts, Skopje, Republic of Macedonia.

Rare renal diseases (RRD) are an important category of rare disease (RD) as they can do great damage to the patients, families and society. The patient may undergo years even decades of numerous investigations including invasive procedures and yet not have definitive and precise diagnose and therefore, no opportunity for appropriate treatment. The great progress in molecular genetic techniques characterized many Mendelian diseases on molecular level. Read More

Mech Dev 2018 06 4;151:10-17. Epub 2018 Apr 4.

Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, United States. Electronic address:

Eukaryotic cilia are assembled by intraflagellar transport (IFT) where large protein complexes called IFT particles move ciliary components from the cell body to the cilium. Defects in most IFT particle proteins disrupt ciliary assembly and cause mid gestational lethality in the mouse. IFT25 and IFT27 are unusual components of IFT-B in that they are not required for ciliary assembly and mutant mice survive to term. Read More

QJM 2018 Jul;111(7):497-498

From the Department of Radiology, Medical Faculty, Ataturk University, 25040 Erzurum, Turkey.

Sci Rep 2018 Mar 21;8(1):4985. Epub 2018 Mar 21.

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

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutation of PKD1 or PKD2, which encode polycystin 1 and 2, respectively. The polycystins localize to primary cilia and the functional loss of the polycystin complex leads to the formation and progressive growth of fluid-filled cysts in the kidney. The pathogenesis of ADPKD is complex and molecular mechanisms connecting ciliary dysfunction to renal cystogenesis are unclear. Read More

Int J Mol Sci 2018 Mar 16;19(3). Epub 2018 Mar 16.

Institute of Metabolic Disease Research and Drug Development, China Medical University, Shenyang 110122, China.

Transepithelial fluid and salt re-absorption in epithelial tissues play an important role in fluid and salt homeostasis. In absorptive epithelium, fluid and salt flux is controlled by machinery mainly composed of epithelial sodium channels (ENaC), cystic fibrosis transmembrane conductance regulator (CFTR), Na⁺/H⁺ exchanger (NHE), aquaporin, and sodium potassium adenosine triphosphatase (Na⁺/K⁺-ATPase). Dysregulation of fluid and salt transport across epithelium contributes to the pathogenesis of many diseases, such as pulmonary edema and cystic fibrosis. Read More

J Fish Dis 2018 Jul 15;41(7):1093-1101. Epub 2018 Mar 15.

Department of Aquatic Animal Health, Faculty of Veterinary Medicine, University of Tehran, Tehran, Iran.

Abdominal distention occurred at an incidence of 1% (15 from 1500 fish) in the population of 1-year-old bester (Huso huso × Acipenser ruthenus). Computed tomography (CT) images and radiographs showed a soft tissue mass compressed the posterior part of the swim bladder. Ultrasonography showed that the masses had different patterns. Read More

Int J Nephrol Renovasc Dis 2018 1;11:53-67. Epub 2018 Feb 1.

Pediatric Nephrology Center of Excellence, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Autosomal dominant polycystic kidney disease (ADPKD) causes pathological cystic changes to the kidney and is characterized by numerous renal and systemic manifestations. ADPKD is the fourth most common renal disease requiring renal replacement therapy. In this report, we present a detailed review of ADPKD, with a particular focus on its major economic, psychological, and social burden in affected patients. Read More

Tunis Med 2017 Feb;95(2):156-157

Radiology 2018 05 5;287(2):504-514. Epub 2018 Feb 5.

From the Department of Radiology (T.J.R., D.T.W., A.B.K., P.V.P.) and Institute for Technology Assessment (T.J.R., D.T.W., A.B.K., P.V.P.), Massachusetts General Hospital, 101 Merrimac St, 10th Floor, Boston, MA 02114; Department of Radiology, University of Alabama at Birmingham, Birmingham, Ala (L.L.B.); Department of Radiology, Cleveland Clinic, Cleveland, Ohio (B.R.H.); and Department of Radiology, NYU-Langone Medical Center, New York, NY (A.J.M.).

Purpose To determine the effects of patient age and comorbidity level on life expectancy (LE) benefits associated with imaging follow-up of Bosniak IIF renal cysts and pancreatic side-branch (SB) intraductal papillary mucinous neoplasms (IPMNs). Materials and Methods A decision-analytic Markov model to evaluate LE benefits was developed. Hypothetical cohorts with varied age (60-80 years) and comorbidities (none, mild, moderate, or severe) were evaluated. Read More

Am J Kidney Dis 2018 Aug 1;72(2):302-308. Epub 2018 Feb 1.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN. Electronic address:

The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the genes PKD1, PKD2, or rarely GANAB. We report the clinical and genetic dissection of a 7-generation pedigree, resulting in the diagnosis of 2 different cystic disorders. Read More

Kidney Int 2018 05 1;93(5):1108-1117. Epub 2018 Feb 1.

Division of Developmental Biology, Department of Anatomy, Kyoto Prefectural University of Medicine, Kawaramachi, Hirokoji, Kamigyo-ku, Kyoto, Japan.

Connections between cilia and renal cystic diseases are well known, yet molecular mechanisms remain undefined. Cysto-proteins localized in the Inv compartment of cilia (INV, NPHP3, NEK8, and ANKS6) constitute a distinct group. Here we created and analyzed mutant mice (G2A mice) with a defective cilia localization signal in the Nphp3 gene. Read More