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https://read.qxmd.com/read/30734414/renal-hepatic-pancreatic-dysplasia-1-diagnosed-on-comprehensive-gene-analysis
#1
Yosuke Inaguma, Hiroshi Kaito, Naoya Morisada, Kazumoto Iijima, Ryojiro Tanaka
No abstract text is available yet for this article.
February 7, 2019: Pediatrics International: Official Journal of the Japan Pediatric Society
https://read.qxmd.com/read/30725063/-detection-of-mutations-of-the-hnf1b-gene-in-children-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#2
M Nicole Bascur P, M Luisa Ceballos O, Mauricio Farfán U, Iván Gajardo H, Joaquín López C
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. OBJECTIVE: To determine the presence of variants of the HNF1B gene in Chilean children with conge nital anomalies of the kidney and/or the urinary tract and their clinical characteristics...
December 2018: Revista Chilena de Pediatría
https://read.qxmd.com/read/30666461/hnf1b-nephropathy-has-a-slow-progressive-phenotype-in-childhood-with-the-exception-of-very-early-onset-cases-results-of-the-german-multicenter-hnf1b-childhood-registry
#3
Christine Okorn, Anne Goertz, Udo Vester, Bodo B Beck, Carsten Bergmann, Sandra Habbig, Jens König, Martin Konrad, Dominik Müller, Jun Oh, Nadina Ortiz-Brüchle, Ludwig Patzer, Raphael Schild, Tomas Seeman, Hagen Staude, Julia Thumfart, Burkhard Tönshoff, Ulrike Walden, Lutz Weber, Marcin Zaniew, Hildegard Zappel, Peter F Hoyer, Stefanie Weber
BACKGROUND: HNF1B gene mutations are an important cause of bilateral (cystic) dysplasia in children, complicated by chronic renal insufficiency. The clinical variability, the absence of genotype-phenotype correlations, and limited long-term data render counseling of affected families difficult. METHODS: Longitudinal data of 62 children probands with genetically proven HNF1B nephropathy was obtained in a multicenter approach. Genetic family cascade screening was performed in 30/62 cases...
January 21, 2019: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://read.qxmd.com/read/30661744/videolaparoscopic-lower-pole-heminephrectomy-for-treatment-of-a-duplex-kidney
#4
G Lang-Motta, E Llorens de Knecht, J M Gaya Sopena, Y Quiróz Madarriaga, A Bujons Tur
INTRODUCTION: In a duplicated renal collecting system, or duplex kidney, the most frequent pathology presenting at the lower pole is the vesicoureteral reflux (VUR), which could lead to urinary tract infections (UTI) or even renal dysplasia. Under some circumstances, such as recurrent UTIs or impaired kidney function, heminephrectomy of the pathologic moiety is indicated. However, there are only few academic videos of laparoscopic lower pole heminephrectomy in the pediatric population available in literature...
November 22, 2018: Journal of Pediatric Urology
https://read.qxmd.com/read/30648921/first-international-consensus-on-the-diagnosis-and-management-of-fibromuscular-dysplasia
#5
Heather L Gornik Co-Chair, Alexandre Persu Co-Chair, David Adlam, Lucas S Aparicio, Michel Azizi, Marion Boulanger, Rosa Maria Bruno, Peter de Leeuw, Natalia Fendrikova-Mahlay, James Froehlich, Santhi K Ganesh, Bruce H Gray, Cathlin Jamison, Andrzej Januszewicz, Xavier Jeunemaitre, Daniella Kadian-Dodov, Esther Sh Kim, Jason C Kovacic, Pamela Mace, Alberto Morganti, Aditya Sharma, Andrew M Southerland, Emmanuel Touzé, Patricia van der Niepen, Jiguang Wang, Ido Weinberg, Scott Wilson, Jeffrey W Olin, Pierre-Francois Plouin
This article is a comprehensive document on the diagnosis and management of fibromuscular dysplasia (FMD), which was commissioned by the working group 'Hypertension and the Kidney' of the European Society of Hypertension (ESH) and the Society for Vascular Medicine (SVM). This document updates previous consensus documents/scientific statements on FMD published in 2014 with full harmonization of the position of European and US experts. In addition to practical consensus-based clinical recommendations, including a consensus protocol for catheter-based angiography and percutaneous angioplasty for renal FMD, the document also includes the first analysis of the European/International FMD Registry and provides updated data from the US Registry for FMD...
January 16, 2019: Vascular Medicine
https://read.qxmd.com/read/30642276/bilateral-renal-artery-stenosis-as-a-cause-of-refractory-intradialytic-hypertension-in-a-patient-with-end-stage-renal-disease
#6
Zachary Wolfmueller, Kunal Goyal, Bhanu Prasad
BACKGROUND: We report a 61-year-old female with end-stage renal disease (ESRD) secondary to polycystic kidney disease (PKD) complicated by intradialytic hypertension (IDH). Increased sympathetic drive leading to increased stroke volume and/or vasoconstriction with an inappropriate increase in peripheral vascular resistance (PVR) has been postulated to be the cause of IDH. CASE PRESENTATION: Attempts to control her blood pressure by reducing her goal weight; increasing dialysis times/ frequency and decreasing her sodium concentrate in the dialysis fluid were unsuccessful...
January 14, 2019: BMC Nephrology
https://read.qxmd.com/read/30640867/first-international-consensus-on-the-diagnosis-and-management-of-fibromuscular-dysplasia
#7
Heather L Gornik, Alexandre Persu, David Adlam, Lucas S Aparicio, Michel Azizi, Marion Boulanger, Rosa M Bruno, Peter De Leeuw, Natalia Fendrikova-Mahlay, James Froehlich, Santhi K Ganesh, Bruce H Gray, Cathlin Jamison, Andrzej Januszewicz, Xavier Jeunemaitre, Daniella Kadian-Dodov, Esther S H Kim, Jason C Kovacic, Pamela Mace, Alberto Morganti, Aditya Sharma, Andrew M Southerland, Emmanuel Touzé, Patricia Van der Niepen, Jiguang Wang, Ido Weinberg, Scott Wilson, Jeffrey W Olin, Pierre-Francois Plouin
: This article is a comprehensive document on the diagnosis and management of fibromuscular dysplasia (FMD) which was commissioned by the Working Group 'Hypertension and the Kidney' of the European Society of Hypertension (ESH) and the Society for Vascular Medicine (SVM). This document updates previous consensus documents/scientific statements on FMD published in 2014 with full harmonization of the position of European and US experts. In addition to practical consensus-based clinical recommendations, including a consensus protocol for catheter-based angiography and percutaneous angioplasty for renal FMD, the document also includes the first analysis of the European/International FMD Registry and provides updated data from the US Registry for FMD...
February 2019: Journal of Hypertension
https://read.qxmd.com/read/30632118/an-autopsy-case-report-prune-belly-syndrome-with-overlapping-presentation-of-partial-urorectal-septum-malformation-sequence
#8
Çiğdem Kunt Işgüder, Mine Kanat Pektaş, Doğan Köseoğlu, Şahin Takçi
Prune belly syndrome (PBS) is characterized by a classical triad of congenitally absent abdominal muscles, bilateral cryptorchidism, and a malformed urinary tract. Urorectal septum malformation sequence (URSM) is identified with the absence of urogenital and anal openings. This case report describes a 15-week-old female fetus with megacystis, ascites and oligohydramnios in a 19-year-old nulliparous woman. The patient underwent preterm labor at the 33rd gestational week and delivered a female newborn weighing 2250 grams who died three days later due to progressive respiratory insufficiency...
January 11, 2019: Türk Patoloji Dergisi
https://read.qxmd.com/read/30628989/hepatic-lesions-associated-with-mccune-albright-syndrome
#9
Lauren Johansen, Wolfram Haller, Manigandan Thyagarajan, Deirdre Kelly, Patrick McKiernan
McCune Albright Syndrome (MAS) results from a GNAS gene mutation. It is associated with café-au-lait macules, fibrous dysplasia, and several endocrinopathies to include gonadotropin-independent precocious puberty, growth hormone excess, Cushing syndrome, thyroid disease, and renal phosphate wasting. It is recognised to be a rare cause of neonatal cholestasis.We describe the hepatic outcome of three children with MAS referred to a single national liver unit. All presented with high gamma-glutamyl transpeptidase cholestasis and hepatitis...
January 4, 2019: Journal of Pediatric Gastroenterology and Nutrition
https://read.qxmd.com/read/30624987/deep-vascular-phenotyping-in-patients-with-renal-multifocal-fibromuscular-dysplasia
#10
Rosa Maria Bruno, Louise Marais, Hakim Khettab, Aurélien Lorthioir, Michael Frank, Xavier Jeunemaitre, Stéphane Laurent, Pierre Boutouyrie, Michel Azizi
Arterial fibromuscular dysplasia is a nonatherosclerotic, noninflammatory vascular disease, whose pathophysiology is still unknown. We performed deep image-based vascular phenotyping of nonaffected arteries to look for systemic vascular alterations in fibromuscular dysplasia. This single center cross-sectional study included 50 patients with multifocal renal fibromuscular dysplasia, 50 hypertensive patients, and 50 healthy controls, matched for age, sex, and ethnicity; hypertensive patients were matched also for blood pressure...
February 2019: Hypertension
https://read.qxmd.com/read/30622331/duplication-of-10q24-locus-broadening-the-clinical-and-radiological-spectrum
#11
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu
Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13)...
January 8, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30622327/an-amish-founder-variant-consolidates-disruption-of-cep55-as-a-cause-of-hydranencephaly-and-renal-dysplasia
#12
Lettie E Rawlins, Hannah Jones, Olivia Wenger, Myat Aye, James Fasham, Gaurav V Harlalka, Barry A Chioza, Alexander Miron, Sian Ellard, Matthew Wakeling, Andrew H Crosby, Emma L Baple
The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings presenting with a lethal foetal disorder. The features of the condition are reminiscent of a Meckel-like syndrome comprising of Potter sequence, hydranencephaly, and cystic dysplastic kidneys...
January 8, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30607776/successful-endovascular-treatment-of-chronic-renal-artery-occlusion-a-preliminary-retrospective-case-series-including-15-patients
#13
Min Yang, Letao Lin, Guochen Niu, Ziguang Yan, Bihui Zhang, Xiaoqiang Tong, Yinghua Zou
PURPOSE: To evaluate in a retrospective, single-center, case series if percutaneous transluminal renal angioplasty/stenting of chronic renal artery occlusion is beneficial to renal function and blood pressure control, which remains controversial. METHODS: Data from 15 consecutive patients with renal artery stump who underwent successful percutaneous transluminal renal angioplasty/stenting only for unilateral chronic renal artery occlusion at our center from January 2007 to February 2018 and completed follow-up were retrospectively evaluated...
January 3, 2019: International Urology and Nephrology
https://read.qxmd.com/read/30599104/imaging-of-kidney-cysts-and-cystic-kidney-diseases-in-children-an-international-working-group-consensus-statement
#14
Charlotte Gimpel, E Fred Avni, Luc Breysem, Kathrin Burgmaier, Anna Caroli, Metin Cetiner, Dieter Haffner, Erum A Hartung, Doris Franke, Jens König, Max C Liebau, Djalila Mekahli, Albert C M Ong, Lars Pape, Andrea Titieni, Roser Torra, Paul J D Winyard, Franz Schaefer
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...
December 18, 2018: Radiology
https://read.qxmd.com/read/30597716/outcomes-of-kidney-transplants-in-pediatric-patients-with-the-vertebral-defects-anal-atresia-cardiac-defects-tracheoesophageal-fistula-renal-anomalies-limb-abnormalities-association
#15
Jessica Diaz, Blanche Chavers, Srinath Chinnakotla, Priya Verghese
In this single-center retrospective study, we analyzed kidney transplant outcomes in nine pediatric patients with VACTERL [vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities] association-making this the largest study of its kind. Of 743 pediatric kidney transplant recipients at our center (1980-2017), nine had documented diagnoses of VACTERL association. All nine had congenital anorectal malformations and renal anomalies, five had vertebral defects, and one had a bifid thumb and tracheoesophageal fistula...
December 30, 2018: Pediatric Transplantation
https://read.qxmd.com/read/30568244/bone-morphogenetic-protein-4-bmp4-loss-of-function-variant-associated-with-autosomal-dominant-stickler-syndrome-and-renal-dysplasia
#16
Thomas R W Nixon, Allan Richards, Laura K Towns, Gavin Fuller, Stephen Abbs, Philip Alexander, Annie McNinch, Richard N Sandford, Martin P Snead
Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant identified. We investigate a variant in the gene encoding growth factor BMP4 in a family with Stickler syndrome with associated renal dysplasia. Next generation sequencing of the coding region of COL2A1, COL11A1 and a panel of genes associated with congenital anomalies of the kidney and urinary tract (CAKUT) was performed...
December 19, 2018: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30560699/prevalence-of-smoking-and-clinical-characteristics-in-fibromuscular-dysplasia-the-arcadia-pol-study
#17
Piotr Dobrowolski, Magdalena Januszewicz, Helena Witowicz, Ewa Warchoł-Celińska, Anna Klisiewicz, Urszula Skrzypczyńska-Banasik, Marek Kabat, Katarzyna Kowalczyk, Anna Aniszczuk-Hybiak, Elżbieta Florczak, Adam Witkowski, Andrzej Tykarski, Krystyna Widecka, Małgorzata Szczerbo-Trojanowska, Witold Śmigielski, Wojciech Drygas, Ilona Michałowska, Piotr Hoffman, Aleksander Prejbisz, Andrzej Januszewicz
PURPOSE: Smoking was identified as a potential factor contributing to fibromuscular dysplasia (FMD). To evaluate the prevalence of smoking and clinical characteristics in FMD subjects. MATERIAL AND METHODS: We analysed 190 patients with confirmed FMD in at least one vascular bed. The rate of smokers in FMD patients was compared to that in two control groups selected from a nationwide survey. RESULTS: The rate of smokers in FMD patients was 42...
December 18, 2018: Blood Pressure
https://read.qxmd.com/read/30560020/prune-belly-syndrome-approaches-to-its-diagnosis-and-management
#18
Radhouane Achour, Wafa Bennour, Imen Ksibi, Meriem Cheour, Tarek Hamila, Rim Ben Hmid, Samia Kacem
Prune Belly syndrome (PBS) or Eagle-Barrett syndrome is an anatomo-radiological syndrome consisting of a complex and rare malformation characterized by the following triad of symptoms: deficiency of the abdominal muscles, malformations of the urinary tract, and bilateral cryptorchidism. The exact etiology is unknown, though PBS predominantly occurs in males. The clinical manifestations can vary widely, from stillbirth to renal and major respiratory dysplasia to almost normal children. The current study included a total of 3 patients...
November 2018: Intractable & Rare Diseases Research
https://read.qxmd.com/read/30556660/ellis-van-creveld-syndrome-and-dandy-walker-malformation-an-uncommon-association
#19
Khadija Boujtat, Siham Rouf, Imane Boutahar, Imane Skiker, Mariam Tajir, Hanane Latrech
Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. To our knowledge, this association has been previously reported in 3 patients in the literature...
December 2018: Pediatric Endocrinology Reviews: PER
https://read.qxmd.com/read/30553290/unilateral-segmental-dysplasia-of-the-vas-deferens
#20
Theodore R Saitz, Anil A Thomas
A healthy 35-year-old male presented for vasectomy after fathering two children. Due to difficulty palpating the left vas, the patient was taken to the operating room for scrotal exploration and vasectomy. The left vas was absent; however, a 1.2 cm pearly nodule was identified in the scrotum along its suspected course. This nodule was excised, found to contain thick white pasty fluid, and confirmed vas deferens by pathology. The patient was found to have normal kidneys on renal ultrasound and was indeed a carrier for cystic fibrosis gene mutations...
December 2018: Canadian Journal of Urology
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