Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease / 中华儿科杂志

Objective@#Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder.@*Method@#Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study. They were admitted to our hospital from January 2013 to March 2017. HNF1B mutations were detected using targeted next generation sequencing and quantitative real-time PCR or Sanger sequencing. HNF1B heterozygous deletion of exons 1-9 was found in 4 patients and 2 fetuses, and HNF1B heterozygous missense mutation in 1 fetus. These two mutations had been reported. Two patients and 1 fetus had de novo mutations. Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed.@*Result@#Three patients were Han Chinese ethnicity, and one patient was Mongolian. In patients 1 and 4, abnormal fetal kidneys were discovered by routine ultrasonography, and the age at first feature identified in Patients 2 and 3 were 13 years and 28 years. Patient 3 had normal renal function and the remainder had reduced glomerular filtration rate. In addition, patient 4 presented with nephrotic syndrome and glycosuria, patient 2 with early onset hyperparathyroidism and renal osteodystrophy, and patient 3 with diabetes mellitus. All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys. Only patient 3 had a positive family history of renal diseases, the remainder had a negative family history of renal diseases. In 3 fetuses, prenatal ultrasound anomalies were detected during the second trimester. These 3 fetuses had hyperechogenic kidneys with or without renal cysts. Polyhydramnios was detected in only one of the 3 fetuses. Two of the 3 fetuses had a positive family history of renal diseases.@*Conclusion@#Clinical phenotypes of HNF1B-related disease are heterogeneous, renal malformations clearly appear to be the most common manifestation, multiple renal cysts are characteristic, and patients can progress to impaired kidney function during childhood; HNF1B mutation is a differential diagnosis of fetal hyperechogenic kidneys or multiple renal cysts.

Epidemiologia e distribuição de lesões extrarrenais de uremia em 161 cães / Epidemiology and distribution of extrarenal lesions of uremia in 161 dogs

Com o objetivo de determinar a epidemiologia e as características morfológicas, incluindo a localização anatômica, das lesões extrarrenais de uremia, bem como determinar as principais lesões do sistema urinário associadas à ocorrência de uremia, foram revisados os protocolos de necropsias de cães realizadas no Laboratório de Patologia Veterinária da Universidade Federal de Santa Maria de janeiro de 1996 a dezembro de 2012 (17 anos). Nesse período foram necropsiados 4.201 cães, sendo que 161 (3,8%) apresentaram lesões extrarrenais de uremia. Em 134 cães (83,2%) foram descritos sinais clínicos associados à uremia. As lesões extrarrenais mais frequentes, em ordem decrescente, foram: gastrite ulcerativa e hemorrágica (56,5%), mineralização de tecidos moles (55,9%), edema pulmonar (47,2%), estomatite e/ou glossite ulcerativa (30,4%), endocardite/trombose atrial e aórtica (28,6%), hiperplasia das paratireoides (9,3%), osteodistrofia fibrosa (8,1%), anemia (6,2%), laringite ulcerativa (5%), enterite ulcerativa/hemorrágica (3,7%), esofagite fibrinonecrótica (1,9%) e pericardite fibrinosa (1.9%). Na maioria dos casos as lesões extrarrenais de uremia foram decorrentes de azotemia prolongada por lesões renais graves, sendo as mais prevalentes a nefrite intersticial e a glomerulonefrite.

The aim of this study was to determine the epidemiology and the morphological characteristics (including the anatomic localization) of the extrarenal uremic lesions, as well as to describe the main lesions of the urinary system associated with the occurrence of uremia, through analysis of the protocols of necropsies performed in dogs from January 1996 to December 2012 (17 years) at the Laboratório de Patologia Veterinária of the Universidade Federal de Santa Maria. A total of 4,201 dogs were necropsied and 161 (3.8%) had extrarenal uremic lesions. In 134 dogs (83.2%) clinical signs associated with uremia were reported. The extrarenal lesions more often observed, in descending order of prevalence, were ulcerative and hemorrhagic gastritis (56.5%), soft-tissue mineralization (55.9%), pulmonary edema (47.2%), ulcerative stomatitis and/or glossitis (30.4%), endocarditis/atrial and aortic thrombosis (28.6%), parathyroid hyperplasia (9.3%), fibrous osteodystrophy (8.1%), anemia (6.2%), ulcerative laryngitis (5%), ulcerative and hemorrhagic enteritis (3.7%), fibrinonecrotic esophagitis (1.9%), and fibrinous pericarditis (1.9%). In most of the cases, the extrarenal lesions of uremia were due to prolonged azotemia secondary to severe renal lesions, such as interstitial nephritis and glomerulonephritis (the most prevalent ones).

Cytomorphology and immunohistochemistry of extrarenal rhabdoid tumor: A case report with review of literature.

Extrarenal rhabdoid tumor (ERRT) is a rare, aggressive tumor with extremely poor prognosis. We report a case of ERRT with intraspinal extension in a 1.5-year-old child diagnosed by fine needle aspiration cytology (FNAC) and immunohistochemistry. The child presented with a right lumbar region lump of two months duration. Ultrasound guided FNAC was performed and cell block was prepared. Smears were highly cellular and showed a dispersed population of large round cells having abundant pale eosinophillic cytoplasm, centrally to eccentrically placed nucleus with large prominent nucleoli. Immunohistochemistry was carried out on cell block which was positive for epithelial membrane antigen EMA and Vimentin. It was negative for leucocyte common antigen [LCA], wilms tumor 1, WT1, desmin and neuron specific enolaseNSE, thus ruling out other tumors like lymphoma, Wilms tumor, rhabdomyosarcoma, and neuroblastoma. A final diagnosis of ERRT was given. ERRT is an extremely rare tumor of retroperitoneal area; it should be included in the differential diagnosis of malignant round cell tumor in children. Cell block in this case is mandatory for putting up the panel of immunohistochemistry which can clinch the diagnosis of rhabdoid tumor and treatment can be started as early as possible.

Extra-renal lesion caused by dioctophyma renale eggs in an erratic cycle in a dog / Lesión extra renal causada por los huevos de dioctophyma renale en un ciclo errático en un perro

A dog with multiple infection by D. renale in the abdominal cavity presented granular peritonitis with giant cells phagocytizing D. renale eggs. Hepatic and phrenic serositis associated to numerous eggs of the parasite immersed in fibrinous process were observed. Lungs presented D. renale eggs in the parenchyma, mononucleated cell infiltrates, edema, hemorrhage, congestion, atelectasia, emphysema, and thromboembolism. D. renale eggs were detected inside the center-lobular veins, auricular cavities, and superficial venous bed of the heart. These findings characterized an atypical dissemination pathway of eggs in erratic cycle.

Un perro con infección múltiple por D. renale en la cavidad abdominal presentó peritonitis granulomatosa con células gigantes fagocitando huevos de D. renale. Se pudo observar serositis hepática y frénica asociada a numerosos huevos del parásito inmersos en un proceso fibrinoso. Los pulmones presentaron huevos de D. renale en el parénquima, infiltrados de células mononucleares, edema, hemorragia, congestión, atelectasia, enfisema y tromboembolismo. Huevos de D. renale fueron detectados en el interior de la vena centro lobular, cavidades auriculares y lechos venosos superficiales del corazón. Estos hallazgos caracterizan una vía de diseminación atípica de los huevos en ciclo errático.

Extrarenal calyces: A rare anomaly of the renal collecting system.

The abnormalities of the renal collecting system represent a complex and often confusing subset of urological anomalies. They manifest in many ways and often make preoperative diagnosis difficult. Extrarenal calyces (wherein the calyces and renal pelvis lie outside the renal parenchyma) is one of the rare anomaly of the collecting system. This anomaly may be associated with other anomalies of the urogenital system. We describe in this case report an unusual case of extrarenal calyces with five long calyces draining a hydronephrotic kidney with associated ureteral atresia. Radiological investigations failed to clearly define these abnormalities. The present case helps in understanding the characteristics of a rare, complex anomaly of the urinary system.

Multiple extrarenal manifestations in hemolytic uremic syndrome: A case report / 소아과

Extrarenal manifestations of hemolytic uremic syndrome (HUS) have increasingly been recognized and may be major determinants of mortality and morbidity. Although microthrombi are often found in the pulmonary and coronary circulation, apparent lung and cardiac involvement are clinically infrequent. We describe here a 10-month-old boy with HUS who developed pulmonary hemorrhage, acute respiratory distress syndrome and dilated cardiomyopathy. Complete renal as well as clinical recovery from these very uncommon complications was achieved by optimum supportive care.

Nefroblastoma extrarrenal: presentación de caso / Extrarenal nephroblastoma: clinical case

Tipo de Estudio: Observación directa de caso clínicoObjetivo: Es dar a conocer la poca frecuencia de la presentación del Tumor de Wilms en su variedad extrarrenal, ya que hasta el año 2002 sólo 56 casos han sido reportados en la Literatura mundial. Presentamos el caso de un niño con una tumoración retroperitoneal, diagnosticada al inicio como nefroblastoma renal, que luego de su investigación clínica y de varios exámenes complementarios, se determinó que se trataba de un caso de nefroblastoma extrarrenal, una presentación clínica pocas veces observada.Conclusión:El tumor de Wilms o Nefroblastoma es el tumor maligno de origen renal en pacientes pediátricos que se presenta con más frecuencia, existen pocos reportes en la literatura mundial de este tipo de tumor, cuando su localización es extrarrenal.

Type of study: Direct observation of clinic case.Objective: To show the very little frequently of Wilms´ tumour presentation in a variety of extrarenal, until the year 2002, only 56 cases were been reported in the worldwide literature.We present a case of a little boy with a retroperitoneal tumour diagnosticaded in the beginning like renal nephroblastoma, and then in the clinic investigation and many complementary examans, we established that was of a case of extrarenal nephroblastoma, a clinic presentation not very often observed.Conclusion: Wilms´ tumour or Nephroblastoma is a malignant tumour of the kidney, found in children that present with more frequency, exist few reports in the worldwide literature of this kind of tumour when his location is extrarenal.

A Case of Retroperitoneal Extrarenal Wilms' Tumor with Metastasis to Lung and Bone / 소아과

Extrarenal Wilms' tumor is a very exceptional tumor which is defined as Wilms' tumor found anywhere other than in the kidneys. Until now less than 60 cases have been reported in the English literature. The tumor can be located in the retroperitoneum, inguinal canal, uterus, cervix, testes, skin and even in the thorax. The diagnosis is almost always made after surgical intervention. Distant metastasis of this tumor has only been reported in the case of a 6-year-old girl who developed Wilms' tumor in the inguinal canal with lung involvement. In this paper we report a case of extrarenal Wilms' tumor in retroperitoneum with distant metastasis to lungs, ribs and pelvic bone in a 6- year old male. The tumor was successfully removed without tumor cell spillage. The patient was diagnosed as favorable histologic group, in which the tumor consists of epithelial, blastemal and mesenchymal components without teratomatous elements. He received combination chemotherapy according to NWTS-IV guidelines and radiation to involved lungs, and has been alive and well for the last 6 months without severe complication or relapse.

Tumor de Wilms extrarrenal: Un caso inusual / Extrarenal Wilm's tumor: An unusual case

El tumor de Wilms extrarrenal es extremadamente raro en la infancia. Se reporta el caso de una niña de 4 años de edad a la que se le realizó diagnóstico en nuestro hospital de esta variante hística de localización retroperitoneal, con buena evaluación posoperatoria, y fue el objetivo dar a conocer esta localización inusual y el valor de la biopsia espirativa con aguja fina en el diagnóstico de esta afección.

Extrarenal Wilms' tumor is extremely rare in children. It is reported the case of a 4-year-old girl that was diagnosed this histic variant of retroperitoneal localization in our hospital with a good postoperative evaluation. The objective of this paper was to make known this unsual localization and the value ot the fine needle aspiration biopsy in the diagnosis of this affection.

A Adult Primary Prostatic Wilms' Tumor with Liver Metastasis / 대한비뇨기과학회지

A case of extrarenal Wilms' tumor, arising in the prostate, with liver metastasis in a 44-year-old male is reported. A literature review indicated that the incidences of Wilms' tumors arising in the extrarenal region are extremely rare, with only one reported case in the literature. The clinical features, and a review of the disease, are briefly discussed.

Infarction of Renal Transplant with Extrarenal Excretion of Tc-99m MAG3 Demonstrated by Renal Scintigraphy / 대한핵의학회잡지

A 38-year-old woman with end stage renal disease received a living related donor-renal transplant to the right iliac fossa. She developed anuria a week later. Tc-99m MAG3 renal scintigraphy demonstrated no perfusion, uptake, or excretion of the radioactive tracer from the renal transplant. The expected area of the renal allograft appeared as a photopenic area with increased rim activity. The gallbladder and bowel activities were observed on delayed images at 24 hours. There was no blood flow within the renal artery on renal doppler examination. This case shows total absence of perfusion and function in the infarcted renal transplant with extrarenal excretion of Tc-99m MAG3 caused by acute renal artery thrombosis.

A case of adult extrarenal Wilms' tumor originated from retroperitoneum / 대한내과학회지

Wilms' tumor is the most common malignant abdominal tumor in the adolescent and pediatric period, whereas adult Wilms' tumor is uncommon. Wilms' tumor often originates in the kidney. Extrarenal Wilms' tumor is rare and has been considered "unstageable". Therefore, treatment and long-term survival have not been uniformly reported. We report a 24 year-old female who developed extrarenal Wilms' tumor, in the retroperitoneal space. She was misdiagnosed for ovarian neoplasm and underwent debulking operation, by which Wilms' tumor was confirmed. Palliative chemotherapy and radiotherapy were performed.

Extrarenal Wilms' Tumor in the Retroperitoneum: A Case Report / 대한소아혈액종양학회지

Extrarenal Wilms' tumor is an extremely rare solid tumor in childhood. The most common location is the retroperitoneum or inguinal area. The diagnosis should be made by histologic confirmation of Wilms' tumor of extrarenal origin and by excluding the existence of supernumerary kidney or embryogenic tumor with teratomatous components. We report a 4 year-old boy with retroperitoneal extrarenal Wilms' tumor, considered to be the second case reported in Korea, who has been relapse-free for 26 months after the completion of chemotherapy. We also made a brief review of the literatures.

A Case of Malignant Extrarenal Rhabdoid Tumor of the Retroperitoneum / 대한소아혈액종양학회지

Malignant rhabdoid tumor is a clinically aggressive neoplasm that was initially described as a distinctive renal tumor of childhood. But among the malignant rhabdoid tumors, extrarenal rhabdoid tumor is rare. We report an extrarenal neoplasm histologically and ultrastructurally identical to renal rhabdoid tumor that arose in the retroperitoneum of a 4-month-old boy and presented as a right lower abdominal mass. The tumor had an aggressive clinical course despite multimodal therapeutic regimens, and the patient died with disseminated disease 12 months after diagnosis.

A Case of Malignant Extrarenal Rhabdoid Tumor

Malignant Rhabdoid tumor is a rare malignant neoplasm and is morphologically similar to rhabdomyosarcoma, but is different immunohistochemically. Most malignant rhabdoid tumors occur in the kidney of infants, and are rarely reported at extrarenal sites. Since Frierson and his collagues first described the malignant extrarenal rhabdoid tumor(MRT) in children in 1985, it has rarely been reported. The neoplasm is histologically and immunohistochemically identical to a renal malignant rhabdoid tumor. There have been no previous reports of this neoplasm in Korea. An MRT of the sacroiliac bone in a 11-year-old girl is described. Five months after the initial presentation, the patient is still alive with partial response to combination chemotherapy and radiotherapy. The authors review previous reports of extrarenal MRT, and discuss the pathologic characteristics, differential diagnosis, and treatment of this rare neoplasm.

Extrarenal manifestations of autosomal dominant polycystic kidney disease

Recently, with the widespread use of new imaging techniques, the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is increasing. To analyze the extrarenal manifestations of ADPKD in Korean patients, we retrospectively studied the clinical characteristics of 30 patients with ADPKD. Thirty Patients with ADPKD who had been diagnosed at Yongdong Severance Hospital from 1988 through 1994 were recruited for this study. All patients' past and family histories were re-evaluated, and charts and radiologic images were reviewed retrospectively. The male to female ratio was 9:21, and the age of initial diagnosis was 39.2 +/- 13.8 (mean +/- SD) years. In 15 cases (50%), ADPKD had been diagnosed by renal symptoms; in 8 cases (26.7%), by chance during evaluation of extrarenal diseases; in 5 cases (16.7%), by family screening; and in 2 cases (6.7%), by uremic symptoms. Extrarenal involvement included hepatic cysts (70%), pancreatic cysts (16.7%), splenic cysts (6.7%), thyroid cysts (6.7%), inguinal hernia (3.3%), and colonic diverticula (3.3%). In 5 cases (16.7%), cardiac valvular abnormalities were noted by echocardiography. Seven patients underwent hemodialysis, and the duration from the initial diagnosis to initiation of dialysis was 9.9 +/- 8.5 (mean +/- SD) years. We investigated the extrarenal manifestations of 30 cases of ADPKD in Koreans, which were also common and clinically important as renal manifestations. Renal cysts are only one of a myriad of renal and extrarenal manifestations of ADPKD. ADPKD should be managed systematically since this disorder is a systemic disease with clinically important involvement of the cardiovascular system, the gastrointestinal tract, the genitourinary system, and the musculoskeletal system.

A Case of Inguinal Wilms' Tumor / 대한비뇨기과학회지

Extrarenal Wilms' tumor is extremely rare and occurs predominantly in children. There are less than 50 well-documented cases of extrarenal Wilms' tumor in the literature. Herein, a case of extrarenal Wilms' tumor, whose mass was found in the inguinal region during an operation for the cryptorchidism, is reported in a 2 year old child with a brief review of literature. This case report illustrates the importance of pathologic examination of similar soft masses, found incidentally during operations.

Extrarenal Malignant Rhabdoid tumor: A Case Report / 대한세포병리학회지

Malignant rhabdoid tumor is a distinct renal tumor in the pediatric age group. It was originally described as a rhabdomyosarcomatoid variant of Wilms tumor. However, subsequent studies failed to confirm myogenous differentiation, so it is now considered to be a distinct and unique type of highly malignant tumor, histogenetically unrelated. Although extrarenal forms of this tumor are rare, several examples have been described in other sites, especially the liver, prostate, paravertebral area, urinary bladder and soft tissue. We experienced a case of malignant rhabdiod tumor located in the intraabdominal cavity in a 10 month-old boy. Smear of peritoneal fluid showed round, polygonal and irregular shaped cells with large nuclei, ample cytoplasm containing Jight pink "to purple cytoplasmic inclusions, and one or a few prominent nucleoli. Immunocytochemistry revealed positivity to cytokeratin, epithelial membrane antigen and vimentin, and negativity to desmin and neuron-specific enolase. These distinct cytologic appearance and immunophenotypes were most consistent with a diagnosis of extrarenal malignant rhabdoid tumor. The cytoplasmic inclusions were correlated with eosinophilic inclusions seen in histologic section and electron microscopy confirmed this interpretation, showing filamentous aggregations in the cytoplasms of the tumor cells.