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1.
Medicine (Baltimore) ; 99(38): e22329, 2020 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-32957401

RESUMO

RATIONALE: A supernumerary kidney is an extremely rare renal anomaly. Currently, <100 cases are reported in the literature. There are only 2 right unilateral supernumerary kidneys reported in the literature thus far, but no confirmed cases of urothelial carcinoma in supernumerary kidneys. We report a case of a right supernumerary with urothelial carcinoma, which is, to the best of our knowledge, reported for the first time. PATIENT CONCERNS: A 73-year-old female patient presented with intermittent, painless, whole course and gross hematuria for about 3 months. Her physical and laboratory examinations did not reveal any significant findings except positive occult blood in routine urine examination. Contrast-enhanced spiral computed tomography revealed a dysplastic supernumerary kidney under the normal right kidney. DIAGNOSES: The ureteroscopy showed that the ureter was Y-shaped in the middle part. The medial ureter led to a normal kidney. The lateral ureter was just 2 cm and led to a small cavity in which there was a mass whose biopsy showed urothelial carcinoma. The patient was subsequently diagnosed with a right supernumerary kidney with urothelial carcinoma. INTERVENTION: Nephroureterectomy, including the right normal and supernumerary kidneys, and partial cystectomy by laparoscopy were performed after the ureteroscopy. The patient then received 6 cycles of gemcitabine and cisplatin regimen chemotherapy and regular intravesical epirubicin chemotherapy. OUTCOMES: No recurrence or metastasis was found on follow-up computed tomography performed 13 months postoperatively. LESSONS: A supernumerary kidney is an extremely rare renal anomaly. Malignancy can occur in supernumerary kidneys.


Assuntos
Carcinoma de Células de Transição/terapia , Neoplasias Renais/terapia , Rim/anormalidades , Idoso , Antineoplásicos/uso terapêutico , Carcinoma de Células de Transição/diagnóstico por imagem , Carcinoma de Células de Transição/patologia , Cisplatino/uso terapêutico , Desoxicitidina/análogos & derivados , Desoxicitidina/uso terapêutico , Humanos , Rim/diagnóstico por imagem , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Nefroureterectomia , Ureter/anormalidades
4.
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Artigo em Inglês | LILACS | ID: biblio-1098321

RESUMO

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.


La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Anormalidades Múltiplas , Ectromelia/complicações , Ectromelia/diagnóstico , Doenças Fetais/diagnóstico , Canal Anal/anormalidades , Síndrome , Traqueia/anormalidades , Evolução Fatal , Esôfago/anormalidades , Rim/anormalidades
5.
PLoS One ; 15(6): e0234375, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32555682

RESUMO

Renal dysplasia, the major cause of childhood renal failure, is characterized by defective branching morphogenesis and nephrogenesis. Beta-catenin, a transcription factor and cell adhesion molecule, is markedly increased in the nucleus of kidney cells in human renal dysplasia and contributes to its pathogenesis by altering target genes that are essential for kidney development. Quercetin, a naturally occurring flavonoid, reduces nuclear beta-catenin levels and reduces beta-catenin transcriptional activity. In this study, we utilized wild type and dysplastic mouse kidney organ explants to determine if quercetin reduces beta-catenin activity during kidney development and whether it improves the severity of renal dysplasia. In wild type kidney explants, quercetin treatment resulted in abnormal branching morphogenesis and nephrogenesis in a dose dependent manner. In wild type embryonic kidneys, quercetin reduced nuclear beta-catenin expression and decreased expression of beta-catenin target genes Pax2, Six2, and Gdnf, which are essential for kidney development. Our RDB mouse model of renal dysplasia recapitulates the overexpression of beta-catenin and histopathological changes observed in human renal dysplasia. RDB kidneys treated with quercetin resulted in improvements in the overall histopathology, tissue organization, ureteric branching morphogenesis, and nephrogenesis. Quercetin treatment also resulted in reduced nuclear beta-catenin and reduced Pax2 expression. These improvements were associated with the proper organization of vimentin, NCAM, and E-cadherin, and a 45% increase in the number of developing and maturing nephrons. Further, our results show that in human renal dysplasia, beta-catenin, vimentin, and e-cadherin also have abnormal expression patterns. Taken together, these data demonstrate that quercetin treatment reduces nuclear beta-catenin and this is associated with improved epithelial organization of developing nephrons, resulting in increased developing nephrons and a partial rescue of renal dysplasia.


Assuntos
Rim/anormalidades , Rim/efeitos dos fármacos , Quercetina/farmacologia , beta Catenina/metabolismo , Animais , Antígenos CD/metabolismo , Caderinas/metabolismo , Núcleo Celular/metabolismo , Modelos Animais de Doenças , Feminino , Humanos , Rim/metabolismo , Masculino , Camundongos , Camundongos Mutantes , Morfogênese/efeitos dos fármacos , Morfogênese/genética , Proteínas Mutantes/química , Proteínas Mutantes/genética , Proteínas Mutantes/metabolismo , Técnicas de Cultura de Órgãos , Gravidez , Vimentina/metabolismo , beta Catenina/química , beta Catenina/genética
8.
Urologe A ; 59(7): 825-828, 2020 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-32472223

RESUMO

Aphallia is an extremely rare congenital malformation of unknown cause. The incidence is reported in the literature to be 1 in 10-30 million live births. Almost 100 cases have been described to date. Aphallia is associated with other congenital malformations (in particular urogenital and gastrointestinal anomalies) in >50% of cases. The diagnosis is made clinically and shows the complete absence of the corpora cavernosa and the corpus spongiosum with a urethral opening along the perineal midline (most frequently ventral to the anus and in the ventral rectal wall). Two case reports from the authors' department: The first child was a male newborn (46,XY) with penis agenesis and additional bilateral intraabdominal testis, an anorectal malformation (ARM) with a rectovesical fistula, as well as left renal duplication and grade III vesico-ureteral reflux on the right side. The second child was a male newborn (46,XY) with aphallia without further urological or anorectal malformation. Only right inguinal hernia was present. In the first patient, several corrective surgeries were performed in the further course in view of the additional malformations. With regard to the aphallia, the various temporary treatment options (scrotal or parascrotal phalloplasty or penis prosthesis) were discussed with the parents. Masculinizing surgery by means of definitive phalloplasty was planned once the patient has reached puberty. Due to the technical demands of phallus reconstruction, feminization is still favored in some countries in the literature, which nowadays, however, cannot be justified medically or legally.


Assuntos
Anormalidades Múltiplas/patologia , Malformações Anorretais , Doenças dos Genitais Masculinos , Rim/anormalidades , Pênis/anormalidades , Anormalidades Urogenitais/patologia , Androgênios , Criança , Humanos , Recém-Nascido , Masculino , Escroto , Maturidade Sexual , Uretra
9.
Rozhl Chir ; 99(2): 95-98, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32349492

RESUMO

INTRODUCTION: Doege-Potter syndrome is a rare syndrome characterized by hypo-insulinemic hypoglycemia. It is caused by excessive ectopic secretion of insulin-like growth factor II from a solitary fibrous tumors of intrapleural or extrapleural origin. Laboratory tests reveal low levels of C-peptide and insulin, on the contrary insulin-like growth factor II level is elevated, which is characteristic for Doege-Potter syndrome. Majority of solitary fibrous tumors present no symptomatology, recurrent hypoglycemia is relatively rare, but it may be the only clinical manifestation. The therapy is surgical, consisting of radical en-bloc tumor resection. CASE REPORT: Authors present a case report of a patient with recurrent hypoglycemia caused solely by solitary fibrous tumor. Hypoglycemia resolved immediately after surgical resection and there were no recurrences. CONCLUSION: Doege-Potter syndrome should be considered as the differential diagnosis in a patient with suspicion on thoracic malignancy if accompanied by features suggestive of hypoglycemia. Prolonged follow up is strongly advised because of the risk of disease recurrence, even in patients with benign solitary fibrous tumors of the pleura (SFTP).


Assuntos
Hipoglicemia/etiologia , Tumor Fibroso Solitário Pleural/complicações , Tumor Fibroso Solitário Pleural/diagnóstico por imagem , Tumor Fibroso Solitário Pleural/cirurgia , Anormalidades Congênitas , Humanos , Rim/anormalidades , Nefropatias/congênito , Recidiva Local de Neoplasia , Pleura
10.
Adv Exp Med Biol ; 1236: 109-136, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32304071

RESUMO

Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects, which cause the majority of chronic kidney diseases in children. CAKUT covers a wide range of malformations that derive from deficiencies in embryonic kidney and lower urinary tract development, including renal aplasia, hypodysplasia, hypoplasia, ectopia, and different forms of ureter abnormalities. The majority of the genetic causes of CAKUT remain unknown. Research on mutant mice has identified multiple genes that critically regulate renal differentiation. The data generated from this research have served as an excellent resource to identify the genetic bases of human kidney defects and have led to significantly improved diagnostics. Furthermore, genetic data from human CAKUT studies have also revealed novel genes regulating kidney differentiation.


Assuntos
Modelos Animais de Doenças , Nefropatias/congênito , Rim/anormalidades , Sistema Urinário/anormalidades , Animais , Doença Crônica , Humanos , Nefropatias/diagnóstico , Nefropatias/genética , Camundongos
11.
Radiol Clin North Am ; 58(3): 639-652, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32276708

RESUMO

Congenital entities sharing imaging characteristics with true pathologies occasionally are discovered incidentally in adults. These may occur in the neck, chest, abdomen/pelvis, or musculoskeletal systems. Although these incidental findings share imaging features with true pathologic processes, up-to-date knowledge and assessment with the most appropriate imaging modalities generally allow a distinction between congenital entities that may be safely dismissed and pathologic processes requiring further assessment and treatment. This article reviews several of the most common congenital processes that may present incidentally in adult patients mimicking disease. Emphasis is on findings that can be used to distinguish congenital process from true disease processes.


Assuntos
Branquioma/diagnóstico por imagem , Diagnóstico por Imagem/métodos , Achados Incidentais , Rim/anormalidades , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades do Sistema Respiratório/diagnóstico por imagem , Timo/anormalidades , Timo/diagnóstico por imagem , Adulto , Criança , Humanos
12.
Nat Commun ; 11(1): 1746, 2020 04 08.
Artigo em Inglês | MEDLINE | ID: mdl-32269212

RESUMO

In mammalian cell lines, the endosomal sorting complex required for transport (ESCRT)-III mediates abscission, the process that physically separates daughter cells and completes cell division. Cep55 protein is regarded as the master regulator of abscission, because it recruits ESCRT-III to the midbody (MB), the site of abscission. However, the importance of this mechanism in a mammalian organism has never been tested. Here we show that Cep55 is dispensable for mouse embryonic development and adult tissue homeostasis. Cep55-knockout offspring show microcephaly and primary neural progenitors require Cep55 and ESCRT for survival and abscission. However, Cep55 is dispensable for cell division in embryonic or adult tissues. In vitro, division of primary fibroblasts occurs without Cep55 and ESCRT-III at the midbody and is not affected by ESCRT depletion. Our work defines Cep55 as an abscission regulator only in specific tissue contexts and necessitates the re-evaluation of an alternative ESCRT-independent cell division mechanism.


Assuntos
Proteínas de Ciclo Celular/metabolismo , Citocinese , Células-Tronco Neurais/citologia , Células-Tronco Neurais/metabolismo , Animais , Animais Recém-Nascidos , Apoptose , Proteínas de Ciclo Celular/deficiência , Proteínas de Ciclo Celular/genética , Células Cultivadas , Córtex Cerebral/anormalidades , Complexos Endossomais de Distribuição Requeridos para Transporte/metabolismo , Fibroblastos/metabolismo , Deleção de Genes , Genótipo , Rim/anormalidades , Camundongos Endogâmicos C57BL , Camundongos Knockout , Microcefalia/patologia , Mitose
13.
Arch. esp. urol. (Ed. impr.) ; 73(3): 202-208, abr. 2020. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-192917

RESUMO

OBJETIVO: El manejo de la litiasis en anomalías renales es un desafío para el urólogo debido a su infrecuencia; motivo por el cual, el objetivo es presentar nuestra experiencia en Cirugía Retrógrada Intrarrenal (RIRS) en 4 casos con el uso del videoureterorrenoscopio flexible. MATERIAL Y MÉTODOS: Analizamos retrospectivamente la base de datos de las primeras 100 RIRS por litiasis desde la incorporación del videoureterorrenoscopio flexible (FLEX-X 8.4 Fr-STORZ®). Un total de 4 (4%) pacientes presentaban una anomalía renal asociada;un riñón en herradura, un riñón poliquístico, una ectopía renal cruzada fusionada y un divertículo calicial. Las variables analizadas fueron; demográficas (edad y género); tamaño de la litiasis, tratamientos previos, presentación clínica, tasa libre de litiasis y tasa de complicaciones perioperatorias según la clasificación Dindo-Clavien. RESULTADOS: Entre febrero 2017- marzo del 2018, 4 (4%) pacientes presentaban litiasis asociada a alguna malformación renal. Todos los procedimientos fueron ambulatorios y las litiasis accesibles a la deflexión del endoscopio a pesar de la malformación. La edad promedio fue de 56 años (43 a 65 años) siendo 3 hombres y 1 mujeres. El tamaño medio de la litiasis fue de 16,25 milímetros (6 a 23 mm). Todos los pacientes habían sido tratados previamente con Litotricia Extracopórea por Ondas de Choque (LEOC) y, el paciente con ectopía renal cruzada, mediante un abordaje percutáneo sin éxito. El tiempo promedio de cirugía fue de 57 minutos (43 a 79 minutos) siendo la tasa libre de litiasis del 100%. Como complicaciones, un paciente presentó dolor lumbar a las 48 horas de la cirugía que no cedió con analgésicos vía oral requiriendo tratamiento endovenoso aunque sin hospitalización (Clavien II). CONCLUSIÓN: La cirugía retrógrada intrarrenal es factible, segura y efectiva para el manejo de la litiasis en anomalías renales. No obstante, se necesitan mayor número de casos y estudios comparativos con la litotricia percutánea y extracorpórea como para optarlo como tratamiento de primera línea y no como alternativa a los anteriores


OBJECTIVE: The management of Stone disease in renal abnormalities is a challenge for urologist due to its rarity. The aim of the current manuscript is to report our experience in Retrograde Intrarenal Surgery (RIRS) in 4 complex-abdnormal cases using the flexible videoureterorrenoscopy. MATERIAL AND METHODS: Data was prospectively collected and retrospectively analyzed regarding our first 100 RIRS for stone disease with flexible videoureterorrenoscope (FLEX-X 8.4 Fr- STORZ®) between 2017 and 2018. Four patients presented with renal anomalies and stone disease; one horseshoe kidney, polycystic kidney, a renal ectopia fused and a caliceal diverticulum. We analyzed demographic variables (age and gender), stone size, previous treatment received, clinical presentation, stone free rate and complication rate using Dindo-Clavien classification. RESULTS: 4 (4%) cases of renal stone disease associated to renal anomalies were identified. All procedures were ambulatory. The mean age was 56 years (43 to 65) being 3 male and 1 female. The average Stone size was 16.25 mm (6 to 23). All cases represented recurrent stone disease, initially treated with a primary treatment such as extracorporeal shock wave or percutaneous lithotripsy. The mean surgical time was 57 minutes (43 to 79) and the stone free rate 100%. As complications, one patient presented low back pain at 48 hours after surgery, which did not yield with oral analgesics requiring intravenous treatment, although without admission (Clavien II). CONCLUSION: Retrograde intrarenal surgery for the management of renal stone in kidney anomalies is safe, feasible and effective. However; more cases and comparative studies with percutaneous and extracorporeal lithotripsy are needed to optimize treatment decisión making


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Nefrolitíase/cirurgia , Rim/anormalidades , Procedimentos Cirúrgicos Urológicos , Endoscopia , Nefrostomia Percutânea/métodos , Dor Lombar/complicações , Estudos Prospectivos , Tomografia Computadorizada por Raios X , Doenças Renais Policísticas/diagnóstico por imagem
14.
Can Vet J ; 61(4): 424-426, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32255831

RESUMO

During a routine ovariohysterectomy on a 5-month-old ragdoll cat, right-sided segmental uterine aplasia and ipsilateral renal agenesis were discovered. The diagnosis was confirmed with histopathology. This condition is congenital and is a result of a failure of embryonic development of the paramesonephric ducts. Uterine aplasia and renal agenesis is a rare finding in cats but the prevalence in the ragdoll breed appears to be higher than in the general cat population.


Assuntos
Doenças do Gato , Nefropatias/veterinária , Anormalidades Urogenitais/veterinária , Animais , Gatos , Anormalidades Congênitas , Feminino , Rim/anormalidades , Nefropatias/congênito , Útero
15.
Medicina (Kaunas) ; 56(3)2020 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-32143317

RESUMO

INTRODUCTION: Potter's syndrome, also known as Potter's sequence, is an uncommon and fatal disorder. Potter's sequence in a multiple pregnancy is uncommon, and its frequency remains unknown. Worldwide in a diamniotic twin pregnancy, there are only a few cases described. CASE REPORT: We present an unusual case discordance for Potter's syndrome in a dichorionic diamniotic twin pregnancy. Twin A had the typical physical and histological Potter's findings. Twin B had normal respiratory function and normal physical examination findings. There are many controversies about this condition in diamniotic twin pregnancy. One case report concluded that that the presence of a normal co-twin in diamniotic pregnancy prevented the cutaneous features seen in Potter's syndrome and ameliorated the pulmonary complications, whereas two other case studies reported that the affected twin had extrarenal features typical of the syndrome. CONCLUSION: We performed an autopsy and calculated lung weight/body weight ratio to diagnose pulmonary hypoplasia. Histopathologic examination of lungs and kidneys was performed. We concluded that the appearance of extrarenal features in the affected twin depends on the amniocity.


Assuntos
Anormalidades Congênitas/patologia , Anormalidades Congênitas/fisiopatologia , Nefropatias/congênito , Rim/anormalidades , Gravidez de Gêmeos , Autopsia , Cardiotocografia , Evolução Fatal , Feminino , Sofrimento Fetal , Humanos , Recém-Nascido , Rim/patologia , Rim/fisiopatologia , Nefropatias/patologia , Nefropatias/fisiopatologia , Pulmão/anormalidades , Pulmão/patologia , Gravidez , Adulto Jovem
17.
Curr Urol Rep ; 21(1): 5, 2020 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-32006250

RESUMO

PURPOSE OF THE REVIEW: To update the most relevant literature regarding complex vascular cases in kidney transplant setting involving the graft, especially during the harvesting procedure and back-table preparation from the subsequent implant. RECENT FINDINGS: Challenging situations affecting the kidney graft such as multiple vessels, renal artery aneurysms, kidney anatomical anomalies, or major injuries do not contraindicate the transplant, but require an exhaustive graft viability assessment and several bench surgery techniques. Graft vessel conditioning in the back-table might include simple anastomosis between them, enlarging with venous patch or reconstruction with donor or synthetic grafts. Compared with conventional transplant, literature reports longer warm ischemia time (40 vs 32 min) and slightly increased rates of delayed graft function (10.3% vs 8.2%) and vascular complications (10.8% vs 8.1%), but similar graft and patient survival. Kidney graft vascular complex cases require exhaustive assessment, meticulous harvesting, good surgical technique in the bench table, and proper surgery in the recipient. Despite its complexity, vascular complex kidney transplant offers comparable outcomes in the long term to conventional population when technically well performed, with slightly increased rates of vascular complications and delayed graft function.


Assuntos
Doenças Cardiovasculares/cirurgia , Transplante de Rim/métodos , Rim/cirurgia , Coleta de Tecidos e Órgãos/métodos , Transplantes/irrigação sanguínea , Aneurisma/cirurgia , Função Retardada do Enxerto , Sobrevivência de Enxerto , Humanos , Rim/anormalidades , Rim/irrigação sanguínea , Nefropatias/cirurgia , Falência Renal Crônica/cirurgia , Artéria Renal/cirurgia , Transplantes/anormalidades , Transplantes/cirurgia , Doenças Vasculares/cirurgia , Malformações Vasculares/cirurgia , Lesões do Sistema Vascular/cirurgia , Isquemia Quente
19.
F1000Res ; 92020.
Artigo em Inglês | MEDLINE | ID: mdl-32030122

RESUMO

Congenital abnormalities of the kidney and urinary tract (CAKUT) are a highly diverse group of diseases that together belong to the most common abnormalities detected in the new-born child. Consistent with this diversity, CAKUT are caused by mutations in a large number of genes and present a wide spectrum of phenotypes. In this review, we will focus on duplex kidneys, a relatively frequent form of CAKUT that is often asymptomatic but predisposes to vesicoureteral reflux and hydronephrosis. We will summarise the molecular programs responsible for ureter induction, review the genes that have been identified as risk factors in duplex kidney formation and discuss molecular and cellular mechanisms that may lead to this malformation.


Assuntos
Predisposição Genética para Doença , Hidronefrose , Rim/anormalidades , Refluxo Vesicoureteral , Criança , Humanos , Hidronefrose/genética , Mutação , Refluxo Vesicoureteral/genética
20.
Int J Pediatr Otorhinolaryngol ; 133: 109957, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32109674

RESUMO

OBJECTIVES: Microtia is a congenital ear anomaly that hinders quality of life. Microtia patients, both syndromic and in isolation, may be at-risk for significant renal anomalies that can go undetected at the time of birth. The goal of this study was to characterize the prevalence of renal anomalies among microtia patients at our institution in order to guide optimal patient management. Current guidelines suggest performing a renal ultrasound when there is presence of preauricular pits and ear anomalies in association with dysmorphic features, but not in cases of isolated microtia and atresia. DESIGN: A retrospective review of 237 children with microtia was conducted from 2001 through 2018 at our tertiary-care pediatric institution, of which 98 also had a documented renal ultrasound. Patients were identified as syndromic or non-syndromic. Data endpoints included renal ultrasounds performed, structural anomalies found, and follow-up. RESULTS: Among the 237 patients, 98 had received renal ultrasounds. 12% of the total cohort was found to be syndromic, the most common being Goldenhar. Structural anomalies were detected in 24% of the 98 patients that underwent ultrasound and included disorders such as pelviectasis, renal ectopia, duplicated collecting systems, and renal agenesis. A third of patients with anomalies required follow-up with nephrology for chronic kidney disease or renal failure. Of note, 21% of non-syndromic patients and 43% of syndromic patients screened had an abnormality on ultrasonography. CONCLUSIONS: Children with microtia are at a significant risk of structural renal abnormalities, even when isolated outside of a genetic syndrome. We recommend the strong consideration of performing a screening renal ultrasound in all patients with microtia. Prospective data would be helpful in developing future clinical guidelines regarding the utility of screening ultrasonography.


Assuntos
Anormalidades Congênitas/epidemiologia , Microtia Congênita/epidemiologia , Nefropatias/congênito , Rim/anormalidades , Anormalidades Urogenitais/epidemiologia , Criança , Anormalidades Congênitas/diagnóstico por imagem , Feminino , Humanos , Incidência , Rim/diagnóstico por imagem , Nefropatias/diagnóstico por imagem , Nefropatias/epidemiologia , Masculino , Programas de Rastreamento , Prevalência , Qualidade de Vida , Estudos Retrospectivos , Síndrome , Texas/epidemiologia , Ultrassonografia , Anormalidades Urogenitais/diagnóstico por imagem
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