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multicystic dysplastic kidney

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https://www.readbyqxmd.com/read/28101154/minimally-invasive-open-nephrectomy-on-children-with-multicystic-dysplastic-kidney
#1
Dongchuan Feng, Xiaoyu Zhu, Fang Sun, Tongsheng Ma, Yuan Li, Shujing Chen
The aim of the study was to summarize the preliminary experience of minimally invasive open nephrectomy operation on children with multicystic dysplastic kidney (MCDK). A retrospective review was performed on the clinical materials of the 15 children that had accepted consecutive minimally invasive open nephrectomies during the previous 2 years. The enrolled children were diagnosed with unilateral MCDK under computed tomography, emission computerized tomography and ultrasound and no anomaly in the contralateral functioning kidney was found...
December 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28057124/-value-of-mri-in-prenatal-diagnosis-of-abnormal-fetal-kidneys
#2
H D Liu, H Yu, J G Zhao, X F Xu, N F Wang, W Wang, X Y He
Objective: To investigate the value of MRI in the prenatal diagnosis of abnormal fetal kidneys. Methods: From December 2014 to March 2016, 51 women underwent MRI and were confirmed as having fetuses with abnormal fetal kidneys when follow up. Their clinical and MRI profiles were analyzed retrospectively, including MRI manifestation, the fetal kidney signal intensity of diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC). The signal intensity of DWI and ADC of the abnormal kidney and the normal opposite kidney, and those of the normal and abnormal kidneys in different individuals were compared...
December 25, 2016: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28003643/kaufman-oculo-cerebro-facial-syndrome-in-a-child-with-small-and-absent-terminal-phalanges-and-absent-nails
#3
Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27984599/-application-of-chromosome-microarray-analysis-for-fetuses-with-multicystic-dysplastic-kidney
#4
Feifei Chen, Tingying Lei, Fang Fu, Ru Li, Yongling Zhang, Xiangyi Jing, Xin Yang, Jin Han, Li Zhen, Min Pan, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with multicystic dysplastic kidney (MCDK) by chromosome microarray analysis (CMA). METHODS: Seventy-two fetuses with MCDK were analyzed with conventional cytogenetic technique, among which 30 fetuses with a normal karyotype were subjected to CMA analysis with Affymetrix CytoScan HD arrays by following the manufacturer's protocol. The data was analyzed with ChAS software. RESULTS: Conventional cytogenetic technique has revealed three fetuses (4...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27932430/bladder-agenesis-ectopic-ureters-and-a-multicystic-dysplastic-horseshoe-kidney-in-one-twin-newborn-with-normal-amniotic-fluid-index-in-utero
#5
Marium Naveed Khan, William F Walsh
A monochorionic-diamniotic twin baby presented with intrauterine growth restriction and anuria. The baby was found to have bladder agenesis, a pelvic dysplastic horseshoe kidney, vertebral anomalies, a ventricular septal defect and facial dysmorphisms. It was surprising to find no abnormalities in amniotic fluid indices prenatally, suggesting the possibility of urine output that declined as the pregnancy proceeded. Some degree of twin-to-twin transfusion of amniotic fluid was also possible, which could have rescued the oligohydramnios known to be associated with kidney and urinary tract abnormalities...
December 8, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27883314/diagnostic-and-surgical-approach-to-prenatally-detected-urinary-tract-anomalies
#6
Mile Petrovski
Regular ultrasound examinations carried out in the second trimester of pregnancy help in detecting many anomalies in the fetal urinary tract. Their percentage ranges from 1% to 3% of all controlled pregnancies. There is a wide spectrum of anomalies that affect the urinary tract, but the most significant are: uretero/hydronephrosis (unilateral or bilateral), kidney agenesis, dysplastic kidney, polycystic and multicystic kidneys, anomalies of ascent, anomalies of kidney rotation or fusion, bladder exstrophy, posterior urethra valve etc...
November 1, 2016: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/27735807/testicular-cavernous-hemangioma-presenting-as-an-ipsilateral-lesion-in-a-child-with-multicystic-dysplastic-kidney
#7
Ecmel Işık Kaygusuz, Handan Çetiner, Serdar Moralıoğlu, Oktav Bosnalı, Ayşenur Celayir
Childhood malignant testicle tumors are very rare. In the literature to date, it has been reported that there are only 24 cavernous hemangioma cases existing in English literature. In this study, we discuss a testicular mass case which was diagnosed as cavernous hemangioma. The patient, who followed for left multicystic dysplastic kidney since his birth, was admitted to our clinic with complaints of left testicular mass and pain at 1-year of age. Histopathological investigation revealed cavernous hemagioma...
November 2015: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27684547/parents-perceptions-of-counselling-following-prenatal-diagnosis-of-congenital-anomalies-of-the-kidney-and-urinary-tract-a-qualitative-study
#8
Sarah Marokakis, Nadine A Kasparian, Sean E Kennedy
OBJECTIVES: To explore parents' experiences of counselling after prenatal diagnosis of congenital anomalies of the kidney and urinary tract. MATERIALS AND METHODS: Parents of a child born between September 2012 and March 2015 with posterior urethral valves (PUV) or multicystic dysplastic kidney (MCDK) completed a semi-structured telephone interview, demographic survey, and the Depression, Anxiety and Stress Scales (DASS21). Qualitative data were analysed thematically using NVivo10 software...
September 29, 2016: BJU International
https://www.readbyqxmd.com/read/27666954/multicystic-dysplastic-kidney-assessment-of-the-need-for-renal-scintigraphy-and-the-safety-of-conservative-treatment
#9
M E Carazo-Palacios, M Couselo-Jerez, A Serrano-Durbá, B Pemartín-Comella, C Sangüesa-Nebot, F Estornell-Moragues, C Domínguez-Hinarejos
OBJECTIVES: To assess the need for implementing renal scintigraphy in the diagnosis of the multicystic dysplastic kidney (MCDK) and the safety of its conservative treatment. MATERIAL AND METHODS: A retrospective study of patients with unilateral MCDK was conducted at our centre from January 2005 to August 2015. We calculated the positive predictive value (PPV) of ultrasonography, taking renal scintigraphy and pathology as the gold standard. We calculated a survival curve according to the Kaplan-Meier method to assess the annual probability of spontaneous resolution of the multicystic kidney...
January 2017: Actas Urologicas Españolas
https://www.readbyqxmd.com/read/27643400/diagnostic-accuracy-of-mid-trimester-antenatal-ultrasound-for-multicystic-dysplastic-kidneys
#10
C Scala, S McDonnell, F Murphy, U Leone Roberti Maggiore, A Khalil, A Bhide, B Thilaganthan, A T Papageorghiou
OBJECTIVES: To establish the diagnostic accuracy of obstetric ultrasound at a tertiary fetal medicine centre in the prenatal detection of unilateral and bilateral MCDK in fetuses where this condition was suspected; and to undertake a systematic review of the literature on this topic. METHODS: Retrospective observational study of all cases with an antenatal diagnosis of either unilateral or bilateral MCDK referred to a regional tertiary fetal medicine unit between 1997 and 2015...
September 19, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27378012/congenital-infundibulopelvic-stenosis-indications-for-intervention-surgical-technique-and-review-of-literature
#11
Christopher E Bayne, Craig A Peters
INTRODUCTION: Congenital infundibulopelvic stenosis (IFPS) is a rare renal dysmorphism marked by dilated calyces proximal to diminutive infundibulum and renal pelvises. The entity is theorized to exist on the spectrum of congenital obstructive renal diseases between ureteropelvic junction obstruction and multicystic dysplasia. OBJECTIVE: This case series sought to review and present the surgical management of three cases of IFPS with progressive renal insufficiency...
December 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27217013/-laparoscopic-nephrectomy-in-infant-with-diamond-blackfan-syndrome
#12
Hirotaka Matsui, Koichi Suzuki, Kumiko Kato, Ryohei Hattori
An 8-month-old girl with Diamond Blackfan syndrome and idiopathic neutropenia needed steroid therapy for anemia, but the left multicystic dysplastic kidney was often infected. We performed laparoscopic nephrectomy for infection control without any complications. Neutrocytes increased and the infection decreased after nephrectomy even with steroid therapy. Finally, she underwent bone marrow transplantation, as the anemia was not responding to steroid therapy.
April 2016: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/27206329/ace-serum-level-and-i-d-gene-polymorphism-in-children-with-obstructive-uropathies-and-other-congenital-anomalies-of-the-kidney-and-urinary-tract
#13
Emilya S Kostadinova, Lyuba D Miteva, Spaska A Stanilova
AIM: The aim of this study was to investigate the association of an insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) gene with serum ACE level in relation to the type and severity of malformations from congenital anomalies of the kidney and urinary tract (CAKUT) spectrum. METHODS: Group of 134 Bulgarian children with CAKUT divided into four subgroups according to the leading malformation and 109 controls were genotyped by classical polymerase chain reaction...
May 20, 2016: Nephrology
https://www.readbyqxmd.com/read/27192890/partial-trisomy-4p-and-partial-monosomy-13q-case-report-and-a-literature-review
#14
REVIEW
S Puvabanditsin, G Herrera-Garcia, N Gengel, K Hussein, M February, J Mayne, R Mehta
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism...
2016: Genetic Counseling
https://www.readbyqxmd.com/read/27073431/delayed-diagnosis-of-townes-brocks-syndrome-with-multicystic-kidneys-and-renal-failure-caused-by-a-novel-sall1-nonsense-mutation-a-case-report
#15
Fu-Jun Lin, Wei Lu, Daniel Gale, Yao Yao, Ren Zou, Fan Bian, Geng-Ru Jiang
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end-stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function. A clinical diagnosis of autosomal recessive polycystic kidney disease was made initially as the patient's parents are clinically healthy...
April 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27061706/vesico-amniotic-shunting-for-lower-urinary-tract-obstruction-in-a-fetus-with-vacterl-association
#16
Tomonobu Kanasugi, Akihiko Kikuchi, Gen Haba, Yuri Sasaki, Chizuko Isurugi, Rie Oyama, Toru Sugiyama
Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico-amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks' gestation. Although fetal karyotype was normal 46XY, follow-up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney...
September 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/26977201/multicystic-dysplastic-kidney-mcdk-in-the-neonate-the-role-of-the-urologist
#17
Karen Psooy
No abstract text is available yet for this article.
January 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/26941192/copy-number-variations-in-multicystic-dysplastic-kidney-update-for-prenatal-diagnosis-and-genetic-counseling
#18
Qi Xi, Xiangyu Zhu, Yaping Wang, Tong Ru, Chenyan Dai, Zhiqun Wang, Jie Li, Yali Hu
OBJECTIVE: To assess the clinical implication of chromosomal microarray analysis (CMA) in prenatal diagnosis of MCDK. METHODS: Thirty-seven cases with MCDKs detected by prenatal ultrasound were enrolled in the study; 33 cases were isolated MCDKs and four cases were non-isolated MCDKs. CMA was performed on the Affymetrix CytoScan HD platform. The frequencies of the detected CNVs were compared with 461 cases that underwent CMA for anomalies unrelated to congenital anomalies of kidney and urinary tract (CAKUT) or 124 healthy newborns as controls...
May 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/26932690/prenatal-diagnosis-of-fetal-multicystic-dysplastic-kidney-via-high-resolution-whole-genome-array
#19
Fang Fu, Feifei Chen, Ru Li, Yongling Zhang, Min Pan, Dongzhi Li, Can Liao
BACKGROUND: Women with fetal multicystic dysplastic kidneys (MCDK) are commonly referred for genetic counseling, for which identification of the correct etiology is a prerequisite. METHODS: A total of 72 women with fetal MCDK at Guangzhou Women and Children's Medical Center were examined via invasive prenatal diagnosis from May 2010 to June 2015. Standard karyotyping analysis was provided to all fetuses, and chromosomal microarray with Affymetrix CytoSan HD arrays was offered to cases whose DNA samples were available...
October 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/26928791/sorting-the-alphabet-soup-of-renal-pathology-a-review
#20
Sheilah M Curran-Melendez, Matthew S Hartman, Matthew T Heller, Nancy Okechukwu
Diseases of the kidney often have their names shortened, creating an arcane set of acronyms which can be confusing to both radiologists and clinicians. This review of renal pathology aims to explain some of the most commonly used acronyms within the field. For each entity, a summary of the clinical features, pathophysiology, and radiological findings is included to aid in the understanding and differentiation of these entities. Discussed topics include acute cortical necrosis, autosomal dominant polycystic kidney disease, angiomyolipoma, autosomal recessive polycystic kidney disease, acute tubular necrosis, localized cystic renal disease, multicystic dysplastic kidney, multilocular cystic nephroma, multilocular cystic renal cell carcinoma, medullary sponge kidney, paroxysmal nocturnal hemoglobinuria, renal papillary necrosis, transitional cell carcinoma, and xanthogranulomatous pyelonephritis...
January 28, 2016: Current Problems in Diagnostic Radiology
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