Localized cystic kidney disease: a case report unveiling clinical and histopathological challenges.

Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with lower urinary tract symptoms and gross hematuria. The initial assessment culminated in the identification of an uncomplicated urinary tract infection, prompting the prescription of appropriate oral antibiotic therapy. On follow-up after 5 months, the patient presented with gross hematuria. Imaging studies revealed a mixed-density cystic lesion of 2.6 cm situated within the interpolar region of the right kidney. This cystic lesion exhibited intricate septations at the superior pole of the kidney. Robotic-assisted right partial nephrectomy was performed, and pathologic examination was diagnostic for LCKD. This report not only underscores the uniqueness of LCKD but also presents a comprehensive review of the existing literature that pertains to this condition. Particular emphasis is placed upon its inherent benign behavior and its marked divergence from the progressive trajectory commonly associated with other renal diseases. We also explored the incidental findings of the disease, its diverse clinical symptomatology, conceivable etiological underpinnings, and the array of diagnostic modalities used. Finally, similarities in histopathologic findings with polycystic kidney disease and other entities are discussed, underscoring the importance of accurate diagnosis and management.

Localized cystic kidney disease: a case report unveiling clinical and histopathological challenges

ABSTRACT Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with lower urinary tract symptoms and gross hematuria. The initial assessment culminated in the identification of an uncomplicated urinary tract infection, prompting the prescription of appropriate oral antibiotic therapy. On follow-up after 5 months, the patient presented with gross hematuria. Imaging studies revealed a mixed-density cystic lesion of 2.6 cm situated within the interpolar region of the right kidney. This cystic lesion exhibited intricate septations at the superior pole of the kidney. Robotic-assisted right partial nephrectomy was performed, and pathologic examination was diagnostic for LCKD. This report not only underscores the uniqueness of LCKD but also presents a comprehensive review of the existing literature that pertains to this condition. Particular emphasis is placed upon its inherent benign behavior and its marked divergence from the progressive trajectory commonly associated with other renal diseases. We also explored the incidental findings of the disease, its diverse clinical symptomatology, conceivable etiological underpinnings, and the array of diagnostic modalities used. Finally, similarities in histopathologic findings with polycystic kidney disease and other entities are discussed, underscoring the importance of accurate diagnosis and management.

A case of colonoscopy-induced Wunderlich's syndrome in a hemodialysis patient: coincidence or association? / Um caso de síndrome de Wunderlich induzida por colonoscopia em um paciente em hemodiálise: coincidência ou associação?

Abstract Wunderlich syndrome, or spontaneous renal hemorrhage (SRH), is a rare condition encountered in patients undergoing chronic hemodialysis (HD) usually attributed to acquired cystic kidney disease (ACKD) among other causes. In the literature, colonoscopy is associated with splenic injuries, and renal hemorrhage has not been previously described. Management can range from conservative treatment to angiographic embolization or exploration and nephrectomy. Here we report an unusual case of a 54-year-old woman HD patient who presented with SRH within a few days of colonoscopy. The reason of SRH was rupture of an ACKD cyst. We assumed that colonoscopy was a provoking factor and elaborated hypotheses for its etiopathogenesis. The patient underwent successful left nephrectomy. The importance of this case lies in the fact that colonoscopy is not always an innocent procedure in HD patients, and could be complicated by renal cyst hemorrhage.

Resumo A síndrome de Wunderlich, ou hematoma perirrenal espontâneo (HPE), é uma condição rara encontrada em pacientes submetidos à hemodiálise crônica (HD) geralmente atribuída à doença renal cística adquirida (DRCA), entre outras causas. Na literatura, a colonoscopia está associada a lesões esplênicas, e o hematoma renal não foi descrito anteriormente. O manejo pode variar de tratamento conservador a embolização angiográfica ou exploração e nefrectomia. Aqui relatamos um caso incomum de uma paciente em HD de 54 anos de idade que se apresentou com HPE dentro de poucos dias após a colonoscopia. O motivo do HPE foi a ruptura de um cisto de DRCA. Consideramos que a colonoscopia foi um fator provocador e elaboramos hipóteses para sua etiopatogenia. A paciente foi submetida a uma nefrectomia esquerda bem-sucedida. A importância deste caso reside no fato de que a colonoscopia nem sempre é um procedimento inocente em pacientes em HD, e pode ser complicada por hemorragia do cisto renal.

Pathological and Clinical Outcomes in a Large Surveillance and Intervention Cohort of Radiographically Cystic Renal Masses.

PURPOSE: We evaluated oncologic risks in a large cohort of patients with radiographic cystic renal masses who underwent active surveillance or intervention. MATERIALS AND METHODS: A single-institutional database of 4,340 kidney lesions managed with either active surveillance or intervention between 2000-2020 was queried for radiographically cystic renal masses. Association of radiographic tumor characteristics and high-grade pathology was evaluated. RESULTS: We identified 387 radiographically confirmed cystic lesions in 367 patients. Of these, 247 were resected (n=240) or ablated (n=7; n=247, 203 immediate vs 44 delayed intervention). Pathologically, 23% (n=56) demonstrated high-grade pathology. Cystic features were explicitly described by pathology in only 18% (n=33) of all lesions and in 7% (n=4) of high-grade lesions. Of the intervention cohort, African American race, male gender, and Bosniak score were associated with high-grade pathology (P < .05). On active surveillance (n=184), Bosniak IV lesions demonstrated faster growth rates than IIF and III lesions (2.7 vs 0.6 and 0.5 mm/y, P ≤ .001); however, growth rates were not associated with high-grade pathology (P = .5). No difference in cancer-specific survival was identified when comparing intervention vs active surveillance at 5 years (99% vs 100%, P = .2). No difference in recurrence was observed between immediate intervention vs delayed intervention (P > .9). CONCLUSIONS: A disconnect between "cystic" designation on imaging and pathology exists for renal lesions. Over 80% of radiographic Bosniak cystic lesions are not described as "cystic" on pathology reports. More than 1 in 5 resected cystic renal lesions demonstrated high-grade disease. Despite this finding, judiciously managed active surveillance ± delayed intervention is a safe and effective management option for most radiographic cystic renal masses.

CT-based Bosniak classification of cystic renal lesions: is version 2019 an improvement on version 2005?

OBJECTIVE: To compare the diagnostic performance and inter-reader agreement of the CT-based v2019 versus v2005 Bosniak classification systems for risk stratification of cystic renal lesions (CRL). METHODS: This retrospective study included adult patients with CRL identified on CT scan between 2005 and 2018. The reference standard was histopathology or a minimum 4-year imaging follow-up. The studies were reviewed independently by five readers (three senior, two junior), blinded to pathology results and imaging follow-up, who assigned Bosniak categories based on the 2005 and 2019 versions. Diagnostic performance of v2005 and v2019 Bosniak classifications for distinguishing benign from malignant lesions was calculated by dichotomizing CRL into the potential for ablative therapy (III-IV) or conservative management (I-IIF). Inter-reader agreement was calculated using Light's Kappa. RESULTS: One hundred thirty-nine patients with 149 CRL (33 malignant) were included. v2005 and v2019 Bosniak classifications achieved similar diagnostic performance with a sensitivity of 91% vs 91% and a specificity of 89% vs 88%, respectively. Inter-reader agreement for overall Bosniak category assignment was substantial for v2005 (κ = 0.78) and v2019 (κ = 0.75) between senior readers but decreased for v2019 when the Bosniak classification was dichotomized to conservative management (I-IIF) or ablative therapy (III-IV) (0.80 vs 0.71, respectively). For v2019, wall thickness was the morphological feature with the poorest inter-reader agreement (κ = 0.43 and 0.18 for senior and junior readers, respectively). CONCLUSION: No significant improvement in diagnostic performance and inter-reader agreement was shown between v2005 and v2019. The observed decrease in inter-reader agreement in v2019 when dichotomized according to management strategy may reflect the more stringent morphological criteria. KEY POINTS: • Versions 2005 and 2019 Bosniak classifications achieved similar diagnostic performance, but the specificity of higher risk categories (III and IV) was not increased while one malignant lesion was downgraded to v2019 Bosniak category II (i.e., not subjected to further follow-up). • Inter-reader agreement was similar between v2005 and v2019 but moderately decreased for v2019 when the Bosniak classification was dichotomized according to the potential need for ablative therapies (I-II-IIF vs III-IV).

Malignancy risk stratification of cystic renal lesions based on a contrast-enhanced CT-based machine learning model and a clinical decision algorithm.

OBJECTIVE: To distinguish benign from malignant cystic renal lesions (CRL) using a contrast-enhanced CT-based radiomics model and a clinical decision algorithm. METHODS: This dual-center retrospective study included patients over 18 years old with CRL between 2005 and 2018. The reference standard was histopathology or 4-year imaging follow-up. Training and testing datasets were acquired from two institutions. Quantitative 3D radiomics analyses were performed on nephrographic phase CT images. Ten-fold cross-validated LASSO regression was applied to the training dataset to identify the most discriminative features. A logistic regression model was trained to classify malignancy and tested on the independent dataset. Reported metrics included areas under the receiver operating characteristic curves (AUC) and balanced accuracy. Decision curve analysis for stratifying patients for surgery was performed in the testing dataset. A decision algorithm was built by combining consensus radiological readings of Bosniak categories and radiomics-based risks. RESULTS: A total of 149 CRL (139 patients; 65 years [56-72]) were included in the training dataset-35 Bosniak(B)-IIF (8.6% malignancy), 23 B-III (43.5%), and 23 B-IV (87.0%)-and 50 CRL (46 patients; 61 years [51-68]) in the testing dataset-12 B-IIF (8.3%), 10 B-III (60.0%), and 9 B-IV (100%). The machine learning model achieved high diagnostic performance in predicting malignancy in the testing dataset (AUC = 0.96; balanced accuracy = 94%). There was a net benefit across threshold probabilities in using the clinical decision algorithm over management guidelines based on Bosniak categories. CONCLUSION: CT-based radiomics modeling accurately distinguished benign from malignant CRL, outperforming the Bosniak classification. The decision algorithm best stratified lesions for surgery and active surveillance. KEY POINTS: • The radiomics model achieved excellent diagnostic performance in identifying malignant cystic renal lesions in an independent testing dataset (AUC = 0.96). • The machine learning-enhanced decision algorithm outperformed the management guidelines based on the Bosniak classification for stratifying patients to surgical ablation or active surveillance.

Clinical phenotype and genotype analysis in 9 children with nephronophthisis / 中华肾脏病杂志

Objective:To investigate and analyze the clinical phenotypes and genotypes in children diagnosed with nephronophthisis (NPHP), and to provide references for clinical diagnosis.Methods:Clinical data of 9 children with NPHP diagnosed by genetic testing in the Department of Nephrology, Wuhan Children′s Hospital from April 2017 to January 2022 were retrospectively collected. The clinical characteristics and genetic test results were analyzed.Results:The median onset age was 11.2(3.4, 14.2) years old in 9 patients, including 5 females and 4 males. There were 8 cases of glomerular proteinuria, 8 cases of renal tubular proteinuria, and 7 cases of reduced urinary gravity in 9 patients. All the children had varying degrees of impaired renal function at the time of diagnosis. Seven cases entered chronic kidney disease (CKD) stage 5, 1 case entered CKD stage 3, and 1 case entered CKD stage 4 at the time of diagnosis. All the children had renal ultrasound abnormalities of varying degrees: size change (3/9), echo enhancement (8/9) and cysts (3/9). Extrarenal phenotypes were present in 3 children. Genetic test showed that 6 patients had mutation of NPHP1 gene, 1 patient had mutation of WDR19 gene, 1 patient had mutation of NPHP3 gene and 1 patient had mutation of NPHP5 gene. Conclusions:Deletion mutation of NPHP1 gene is the most common, while NPHP3, NPHP5 and extremely rare WDR19 mutations have also been found in NPHP patients. The clinical manifestations of NPHP are not typical, so it is necessary to find a specific diagnosis method in the early.

Prenatal diagnosis of Joubert syndrome caused by de novo mutations of CPLANE1 gene / 中华围产医学杂志

We report a case of fetal cerebellar vermis dysplasia diagnosed prenatally by ultrasonography. Ultrasonography of the 27-year-old woman at 20 +6 gestational weeks revealed partial separation of the cerebellar vermis (Dandy-Walker variants), unclosable upper and lower lips, and polydactyly, based on which a preliminary diagnosis of multiple fetal malformations was made. Karyotype and chromosomal microarray (CMA) analysis of the amniotic fluid showed no abnormality. After genetic counseling, amniocentesis was performed again for a whole-exome sequencing test. The results suggested that there are compound heterozygous variations of c.3435G>A(P.W1145X) and c.2941C>G(p. p981A) in the exon 19 and exon 17 of the CPLANE1 gene, which were both de novo mutations and inherited from the father and mother, respectively. The fetus was diagnosed as Joubert syndrome. Given the facial and limb deformities and a significant risk of neurological abnormalities of the fetus, the patient and her family decided to terminate the pregnancy.

Sonographic features of Joubert syndrome in first or second trimester: report of two fetuses / 中华围产医学杂志

We report two cases of Joubert syndrome initially tentatively diagnosed by prenatal ultrasound in the first or second trimester which were thereafter confirmed by whole exome sequencing (WES). Case 1 was one of the twins who presented with increased intracranial transparency (IT) and thinner brainstem at 12 +1 gestational weeks. Ultrasound at 18 +2 weeks found multiple intracranial malformations, "molar tooth sign (MTS)" at the midbrain-hindbrain junction level in the cerebral cross section, and bilateral ventriculomegaly. Enlarged and echogenic kidneys and oligohydramnios were also detected. In case 2, ultrasound image at 17 +5 weeks of gestation indicated multiple intra-and extra cranial and extracranial malformations, MTS in the midbrain-hindbrain junction plane, bilateral ventriculomegaly, unclear cavum septum pellucidum. Extracranial anomalies were bilateral multicystic enlarged kidneys, invisible bladder, and oligohydramnios. Both fetuses underwent amniocentesis, which showed normal karyotype and no copy number variation was detected. However, variation of the TMEM67 gene (c.312+5G>A at introns 2 and c.1175C>G at exon12) was detected in both fetuses by WES, supporting the diagnosis of Joubert syndrome. Selective reduction and termination of pregnancy were performed on case 1 and case 2 at 18 +5 and 19 weeks of gestation, respectively.

La laparoscopía el nuevo estándar de oro para el tratamiento de quistes renales simples sintomáticos / Laparoscopy the new gold standard for the treatment simple symptomatic renal cysts

más frecuentes del riñón. Su tratamiento consiste en la exploración quirúrgica y marsupialización. La cirugía laparoscópica permite una mejor disección, exploración e identificación de la anatomía con trauma mínimo del paciente. OBJETIVO. Mostrar la experiencia en el tratamiento quirúrgico laparoscópico mínimamente invasivo del quiste renal simple sintomático. MATERIALES Y MÉTODOS. Estudio retrospectivo del tratamiento laparoscópico transperitoneal, se evaluó la seguridad de la técnica, complicaciones perioperatorias y resultados clínicos en el transcurso de un año. Se estudió 8 pacientes: 4 mujeres y 4 hombres, con diagnóstico de quistes renales simples sintomáticos, atendidos por el Servicio de Urología del Hospital de Especialidades Carlos Andrade Marín de Quito, Ecuador. CASOS CLÍNICOS. Se registró edad, sexo, antecedentes patológicos personales, comorbilidades, historia familiar, examen físico completo, exámenes de imagen y de laboratorio. RESULTADOS. La media de la edad fue de 57 años con un intervalo entre 39 y 77 años. La indicación de cirugía fue dolor en región lumbar ipsilateral, que no respondieron a los analgésicos convencionales. El tamaño de los quistes osciló entre 7-10 cm de diámetro. El tiempo operatorio medio fue de 71 minutos sin requerir conversión a cirugía abierta. Los pacientes fueron dados de alta en los primeros cinco días del postoperatorio y los drenajes extraídos dentro del primer día. CONCLUSIÓN. El tratamiento laparoscópico de quistes renales simples sintomáticos por vía transperitoneal fue exitoso en todos los casos. El abordaje permitió la extirpación de los quistes, con menor morbilidad, y con un mejor confort postoperatorio para los pacientes.

kidney. Its treatment consists of surgical exploration and marsupialization. Laparoscopic surgery allows a better dissection, exploration and identification of the anatomy with minimal patient trauma. OBJECTIVE. To show the experience in the minimally invasive laparoscopic surgical treatment of the symptomatic simple renal cyst. MATERIALS AND METHODS. Retrospective study of transperitoneal laparoscopic treatment, the safety of the technique, perioperative complications and clinical results over the course of a year were evaluated. 8 patients were studied: 4 women and 4 men, with diagnosis of symptomatic simple renal cysts, attended by the Urology Service of the Carlos Andrade Marín Specialty Hospital of Quito, Ecuador. CLINICAL CASES. Age, sex, personal pathological history, comorbidities, family history, complete physical examination, image and laboratory tests were recorded. RESULTS. The mean age was 57 years with an interval between 39 and 77 years. The indication for surgery was pain in the ipsilateral lumbar region, which did not respond to conventional analgesics. The size of the cysts ranged between 7-10 cm in diameter. The mean operative time was 71 minutes without requiring conversion to open surgery. The patients were discharged in the first five days of the postoperative period and the drains extracted within the first day. CONCLUSION. The laparoscopic treatment of simple symptomatic renal cysts by the transperitoneal route was successful in all cases. The approach allowed the removal of the cysts, with less morbidity, and with a better postoperative comfort for the patients.

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www.nephreg.de) to assess the clinical course of patients with nephronophthisis and related ciliopathies on a yearly base. Cross-sectional and longitudinal data were collected. Mean observation time was 7.5±6.1 years. RESULTS: In total, 51% of the children presented with isolated nephronophthisis, whereas the other 49% exhibited related ciliopathies. Monogenetic defects were identified in 97 of 152 patients, 89 affecting NPHP genes. Eight patients carried mutations in other genes related to cystic kidney diseases. A homozygous NPHP1 deletion was, by far, the most frequent genetic defect (n=60). We observed a high prevalence of extrarenal manifestations (23% [14 of 60] for the NPHP1 group and 66% [61 of 92] for children without NPHP1). A homozygous NPHP1 deletion not only led to juvenile nephronophthisis but also was able to present as a predominantly neurologic phenotype. However, irrespective of the initial clinical presentation, the kidney function of all patients carrying NPHP1 mutations declined rapidly between the ages of 8 and 16 years, with ESRD at a mean age of 11.4±2.4 years. In contrast within the non-NPHP1 group, there was no uniform pattern regarding the development of ESRD comprising patients with early onset and others preserving normal kidney function until adulthood. CONCLUSIONS: Mutations in NPHP genes cause a wide range of ciliopathies with multiorgan involvement and different clinical outcomes.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing. RESULTS: Patients were ages 0.6-36 years old (mean of 9.0±7.6 years old); 41 were female. Mutations were identified in 19 genes in 92 patients; two thirds of the mutations resided in six genes: TMEM67, C5orf42, CC2D2A, CEP290, AHI1, and KIAA0586. Kidney disease was detected in 30%, most commonly in association with the following genes: CEP290 (six of six), TMEM67 (11 of 22), and AHI1 (three of six). No kidney disease was identified in patients with mutations in C5orf42 (zero of 15) or KIAA0586 (zero of six). Prenatal ultrasonography of kidneys was normal in 72% of patients with kidney disease. Specific types of kidney disease included nephronophthisis (31%), an overlap phenotype of autosomal recessive polycystic kidney disease/nephronophthisis (35%), unilateral multicystic dysplastic kidney (10%), and indeterminate-type cystic kidney disease (24%). Early-onset hypertension occurred in 24% of patients with kidney disease. Age at ESRD (n=13) ranged from 6 to 24 years old (mean of 11.3±4.8 years old). CONCLUSIONS: Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1. Patients with mutations in C5orf42 or KIAA0586 are less likely to develop kidney disease. Prenatal ultrasonography is a poor predictor of kidney involvement in Joubert syndrome. Unilateral multicystic dysplastic kidney and autosomal recessive polycystic kidney disease-like enlarged kidneys with early-onset hypertension can be part of the Joubert syndrome kidney phenotype.

[Secondary Arterial Hypertension: Uncertainties in Diagnosis]. / Hipertensão Arterial Sistémica Secundária: Incertezas do Diagnóstico.

Arterial hypertension is regarded today as a global public health problem, and the prevalence rate in Portugal is 26.9%. According to the etiology, is classified into primary or secondary arterial hypertension. In about 90% of cases it is not possible to establish a cause, so is called primary arterial hypertension. In the remaining 5 to 10%, it can be identified secondary causes, which are potentially treatable. For secondary arterial hypertension study to be cost-effective, it is essential to understand which patients investigate, and evaluate the best strategy to adopt. The main causes identified as responsible for secondary arterial hypertension are: kidney disease; endocrine and vascular diseases and obstructive sleep apnea. Among these some are consensual, and others more controversial in the literature. In this regard we present two cases of arterial hypertension, which are potentially secondary in etiology, but still focus of debate.

A hipertensão arterial sistémica configura-se hoje como um problema de saúde pública mundial, sendo a taxa de prevalência em Portugal de 26,9%. De acordo com a sua etiologia classifica-se em hipertensão arterial sistémica primária ou secundária. Em cerca de 90% dos casos, não é possível estabelecer uma causa e por isso a hipertensão arterial sistémica denomina-se primária. Nos restantes 5% a 10%, pode ser identificada uma causa secundária, potencialmente tratável. Para que o estudo da hipertensão arterial sistémica secundária seja custo-eficaz, torna-se essencial perceber quais os doentes a investigar, com que meios, e qual a melhor estratégia a adotar. As principais causas apontadas como responsáveis pela hipertensão arterial sistémica secundária são: patologia renal; endócrina; vascular e síndrome da apneia obstrutiva do sono. Entre estas, algumas são consensuais e outras mais controversas na literatura. A este propósito apresentamos dois casos de hipertensão arterial sistémica, cuja etiologia potencialmente secundária ainda é foco de debate.

Acquired cystic kidney disease in allograft with long-standing poor function / Doença renal cística adquirida em um enxerto cronicamente disfuncional

Abstract Acquired Cystic Kidney Disease (ACKD) is regarded as a common late condition of end stage renal damage and expresses its most important features when associated with long term hemodialysis. ACKD is also widely known as a premalignant lesion. Its occurrence in chronically rejected renal allografts is rare and its frequency and behavior in this setting are not well known. Herein we report a case of ACKD in a long standing nonfunctional allograft (215 months) which is not associated with malignancy and briefly review the related literature.

Resumo A doença renal cística adquirida (ACKD) é considerada uma condição tardia relacionada à doença renal crônica terminal e manifesta-se de modo mais evidente no contexto de hemodiálise de longo prazo. ACKD é amplamente reconhecida como lesão pré-maligna. Sua ocorrência em enxertos renais cronicamente rejeitados é rara, de modo que a frequência e o comportamento da entidade nesse cenário não estão bem documentados. Relatamos a ocorrência de ACKD em um aloenxerto renal não funcionante sem malignidade após 215 meses de transplante e brevemente revisamos a literatura relacionada.

Prenatal diagnosis and prognosis of fetal hyperechogenic kidney: a study of 65 cases / 中华围产医学杂志

Objective To investigate prenatal diagnosis and prognosis of fetus with hyperechogenic kidney.Methods Clinical data of 65 cases prenatally diagnosed with fetal hyperechogenic kidney in Peking University First Hospital between July,2009 and May,2015 were retrospectively analyzed.Results of fetal ultrasound screening and pregnancy outcomes were analyzed and Growth and development status of those babies were followed up until December,2015.Independent-sample-t,Chi-square or Fisher's exact test was applied for statistical analysis.Results Among the 65 cases,including 48(73.8％) bilateral and 17 (26.2％) unilateral,34 cases (52.3％) were diagnosed as non-isolated and 31 cases (47.7％) as isolated fetal hyperechogenic kidney.The primary associated malformations with non-isolated fetal hyperechogenic kidney included cardiac abnormality (14 cases,41.2％),urinary system abnormality (12 cases,35.2％),skeletal system abnormality (nine cases,26.5％),central nervous system abnormality (eight cases,23.5％) and Meckel-Gruber sydrome (one case,2.9％).Amniotic volume,the size and numbers of affected kidney between non-isolated and isolated groups showed no significant differences (all P＞0.05).Twenty out of the 65 cases (30.8％) received fetal karyotyping and one received non-invasive prenatal testing,and no abnormality was detected.Three cases received cord blood array comparative genomic hybridization with negative results.Pathogenic genes were found in two cases who received targeted exome capture with high throughput sequencing,including a TTC21B mutation in cord blood in one case and a HNF1β deletion mutation in peripheral blood after birth in the other.There were 23 (35.4％) terminations of pregnancy and 42 (64.6％) live births among which three died after birth.The rate of live birth was significantly higher in the isolated group than in the non-isolated group[87.1％(27/31) vs 44.1％(15/34),x2=13.101,P＜0.01].Of the fifteen live births in the non-isolated group,there were fourteen survived symptomfree except that one lost to follow-up.Of the 27 live births in the isolated group,follow up study revealed 23 symptom-free survivors,one lost,two neonatal deaths (one died of volvulus neonatorum,and the other due to unknown causes) and one death of renal and liver function failures at the age of two-and-a-half.ConclusionsFetal hyperechogenic kidney is an important prenatal ultrasound marker for congenital renal anomalies,and the prognosis of non-isolated fetal hyperechogenic kidney is poor.The current rate of abnormal karyotype in fetus with hyperechogenic kidney is very low.However,the rate of prenatal genes screening should be encouraged.

Quiste renal hiperdenso. Presentación de un caso / Hyperdense Renal Cyst. A Case Report

Parejo al aumento de las exploraciones radiológicas ha ocurrido el escubrimiento de quistes renales que, en ocasiones, no cumplen los criterios de benignidad o malignidad. Dentro de esta lesiones se encuentran los quistes hiperdensos, los cuales constituyen un reto para todos los responsables del diagnóstico y tratamiento de estos pacientes. Por tales razones se decidió la presentación del caso de una paciente de 23 años de edad, con antecedentes de sicklemia, que acudió al cuerpo de guardia del Hospital General Universitario Dr. Gustavo Aldereguía Lima, por sufrir dolor lumbar en lado izquierdo, de tipo cólico, que no se aliviaba con analgésicos. Mediante estudio por tomografía axial computadoriada, simple y con contraste endovenoso, se le diagnosticó un quiste renal hiperdenso tipo II, según la clasificación de Bosniak.

Increased radiological tests have facilitated the discovery of kidney cysts, which sometimes do not meet clear criteria for benignity or malignancy. Among these lesions, the hyperdense cysts pose a challenge to all those responsible for their diagnosis and treatment. For such reasons we decided to present the case of a 23-year-old female patient with a history of sickle cell anemia, who attended the emergency department of the Dr. Gustavo Aldereguía Lima University General Hospital due to colic-like pain in the left lumbar region unresponsive to analgesics. She was diagnosed with category II renal cyst according to Bosniak classification using computed tomography with and without intravenous contrast.

Asociación de tumor renal sólido y tumor quístico: a propósito de un caso / Association between solid renal tumor and cystic tumor: a case report

Fundamento: los carcinomas de células renales surgen en su gran mayoría en el parénquima renal, existiendo un número menor de casos que aparecen de inicio en un quiste renal, denominándose carcinoma quístico renal. Objetivo: demostrar que pueden coexistir carcinomas renales sólidos y quísticos de forma independiente, aunque sea infrecuente. Caso Clínico: se presenta el caso clínico de un paciente con carcinoma quístico renal más tumor renal sólido en el parénquima, ambos con la variedad de células claras. El ultrasonido y la tomografía axial computarizada fueron los estudios que ayudaron al diagnóstico. Se le realizó nefrectomía radical en el Hospital Docente de Oncología María Curie, de Camagüey, en junio del 2013. El paciente egresó del hospital a los siete días del tratamiento quirúrgico, con seguimiento por consulta externa.

Background: renal cell carcinomas mostly appear in the renal parenchyma; there are some few cases in which they initially appear in a renal cyst so they are identified as renal cyst carcinoma. Objective: to prove that cystic and solid renal carcinomas can coexist independently, although it is infrequent. Clinical case: the clinical case of a patient who was diagnosed with renal cyst and solid renal tumor in the renal parenchyma, both originated from clear cells, is presented. Ultrasound and CAT scan helped determining the diagnosis. Results: the patient underwent a radical nephrectomy which was performed at the Maria Curie Teaching Oncological Hospital in June 2013 in Camagüey city. The patient was discharged seven days after surgery and a follow-up care was established.

Effect of Tube Current on the Pseudo-enhancement of Renal Cyst / 中国医学影像学杂志

PurposeTo evaluate the effect of tube current on the pseudo-enhancement of renal cyst by simulating the phantom model of simple renal cyst.Materials and Methods 10% glucose and iodine solution with a certain concentration was used to simulate the renal parenchymal background concentration in plain scan, moderate enhancement and maximum enhancement respectively. The diameters of the cysts were 6 mm, 10 mm and 15 mm, respectively, and the cysts were divided into three groups according to different tube current: 119 mAs (group A), 178 mAs (group B) and 297 mAs (group C) while the tube voltage were all 120 kV. Whether pseudo-enhancement exists in cyst under different conditions was determined using an increase of CT value of 10 HU as the critical value. Results In group A, there was pseudo enhancement at the 240 HU background, and it was most significant with the diameter of 6 mm, which was 21 HU. In group B, pseudo-enhancement occurred in cysts with diameter of both 10 mm and 6 mm under the background of 180 HU and 240 HU, moreover, the biggest difference was 20.4 HU and it occurred in cyst with diameter of 6 mm under the background of 240 HU. In group C, pseudo-enhancement only occurred in cyst with diameter of 6 mm under the condition of 125 HU and 240 HU background concentration. Background concentration (F=17.587, P<0.01) and cyst diameter (F=4.214,P<0.05) had greater impact on cyst pseudo-enhancement, the higher the background concentration and smaller the diameter, more significantly the pseudo-enhancement would occur. With the increase of the tube current, the CT volume dose index increased, and the pseudo enhancement value was smaller, but there was no obvious regularity of pseudo-enhancement occurrence rate in cysts with different background concentration and diameter in each group.Conclusion The increase of tube current cannot completely eliminate cyst pseudo-enhancement. High background concentration and small diameter cyst are important factors in pseudo-enhancement. However, increasing the tube current can reduce the probability of occurrence of pseudo-enhancement to some extent. For those with heavier body weight, it might be necessary to increase the tube current to improve image quality and reduce the occurrence of renal cyst pseudo-enhancement.

CT Manifestations of Renal Cell Carcinoma with Cystic Change / 中国医学影像学杂志

Purpose To explore the CT features of renal cell carcinoma with cystic change and to compare them with pathological ifndings, so as to improve its diagnostic accuracy. Materials and Methods A retrospective study was carried out in 44 cases of renal cell carcinoma with cystic change conifrmed surgically and pathologically, among which 10 were multilocular cystic renal cell carcinoma, 21 were renal clear cell carcinoma and 13 were papillary renal cell carcinoma. The CT features of these 3 kinds of diseases were analyzed comparatively. Results All of 10 cases of multilocular cystic renal cell carcinoma appeared to have multilocular cysts with thin cystic walls and septa. The mean CT value of cyst was (15.8±5.6) HU. The diameter of wall nodule was larger than 5 mm in 4 cases. The contrast-enhanced CT scan showed that the cystic walls and septa had early moderate enhancement in 8 cases. Among 21 cases of renal clear cell carcinoma, 9 presented to have multilocular cysts with thick cystic walls and septa. The mean CT value of cyst was (32.5±6.7) HU. The diameter of wall nodule was larger than 5 mm in 19 cases. The cystic walls and septa had obvious early enhancement in 20 cases. As to the 13 cases of papillary renal cell carcinoma, 4 appeared to have multilocular cysts with thick cystic walls and septa. The mean CT value of cyst was (26.1±5.6) HU. The diameter of wall nodule was larger than 5mm in 12 cases, and 12 cases appeared to have slight to moderate delayed enhancement. Conclusion The CT features of renal cell carcinoma with cystic change could be used in differential diagnosis, such as with or without pseudocapsule, mean CT value of cyst, thickness of cystic wall and septum, size, boundary, and enhancement of nodule.

Hematoma perirrenal espontâneo em paciente lúpica submetida a tratamento hemodialítico e portadora cistos renais adquiridos / Spontaneous perirenal hematoma in a lupic patient on haemodialysis treatment and with renal cysts

A hemorragia perirrenal espontânea apresenta-se mais comumente como dor súbita no flanco ipsilateral, sem história de trauma. A doença renal cística adquirida é um achado frequente em pacientes sob tratamento hemodialítico crônico. Entretanto, a hemorragia espontânea proveniente da ruptura dos cistos é uma entidade clínica rara. Descrevemos o caso de uma paciente do sexo feminino, 45 anos, portadora de hipertensão arterial sistêmica controlada há 8 anos, de insuficiência renal crônica por 15 anos e de nefrite lúpica há 2 anos, em tratamento hemodialítico três vezes por semana desde 2006, e que apresentava concomitantemente doença renal cística adquirida. Foi admitida no setor de emergência queixando-se de aparecimento súbito de dor em região toracoabdominal esquerda. Diagnosticou-se hematoma perirrenal por meio de ultrassonografia e tomografia computadorizada de abdômen. A paciente foi submetida à embolização da artéria renal esquerda, com boa evolução.

The spontaneous perirenal hemorrhage usually presents as sudden pain in the side ipsilateral, no history of trauma. Acquired cystic kidney disease is a common finding in chronic hemodialysis patients. However, spontaneous bleeding from the rupture of the cyst is a rare clinical entity. We describe the case of a female patient, 45 years old, with controlled hypertension for 8 years, chronic renal failure for 15 years and lupus nephritis 2 years ago, undergoing hemodialysis three times a week since 2006, and who presented concurrently acquired cystic kidney disease. She was admitted to the emergency department complaining of sudden onset of pain in the thoraco-abdominal left. Perirenal hematoma was diagnosed by ultrasound and computed tomography of the abdomen. The patient underwent embolization of left renal artery, with good evolution.