Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.

Nefronoptisis: reporte de un caso pediátrico / Nephronophthisis: a pediatric case report

La nefronoptisis es una enfermedad renal quística, de herencia autosómica recesiva, causada por mutaciones en genes que codifican proteínas involucradas en la función de cilios primarios, lo que resulta en enfermedad renal y manifestaciones extrarrenales como degeneración retiniana y fibrosis hepática. Según la edad de desarrollo de enfermedad renal crónica terminal, se describen tres formas clínicas de presentación: infantil, juvenil y adolescente. El diagnóstico se realiza por una prueba genética positiva o una biopsia de riñón que demuestre cambios tubulointersticiales crónicos con un engrosamiento de las membranas basales tubulares. No existe hasta la actualidad una terapia curativa, por lo que el trasplante renal oportuno es determinante en cuanto al pronóstico. Se presenta un paciente de 13 meses de edad con poliuria de 3 meses de evolución, insuficiencia renal, anemia y elevación de transaminasas. Con hallazgos histológicos compatibles en la biopsia renal, se arribó al diagnóstico de nefronoptisis infantil, con afectación hepática

Nephronophthisis is an autosomal recessive cystic kidney disease caused by mutations in genes that encode proteins involved in the primary cilia function, resulting in kidney disease and extrarenal manifestations such as retinal degeneration and liver fibrosis. According to the age of development of end-stage chronic kidney disease, three clinical forms of presentation are described: infantile, juvenile and adolescent. Diagnosis is made by a positive genetic test, or a kidney biopsy demonstrating chronic tubulointerstitial changes with thickening of the tubular basement membranes. At the moment there is no healing therapy, so early kidney transplant is a fundamental tool to improve prognosis.We present a 13-month old male patient with polyuria, kidney failure, anemia and elevated aminotransferases over three months. With compatible histological kidney biopsy, the diagnosis of infantile nephronophthisis with liver involvement was reached.

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.

Laparoscopic Management of a Renal Hydatid Cyst Masquerading as Simple Renal Cyst.

Hydatid cyst is a parasitic disease caused by the tapeworm Echinococcus granulosus. Hydatid cyst disease mostly involves the liver and the lung, while renal involvement is rare. Hydatid disease may present in unusual ways and lead to diagnostic diffi culty and management problems. A high index of suspicion for hydatid disease should be maintained while evaluating complex cystic renal masses. Herein we present an interesting case who was diagnosed to have a simple renal cyst on contrast-enhanced computed tomogram, which turned out to be a renal hydatid cyst. Despite modern imaging methods, isolated renal hydatid disease might still cause diagnostic dilemma and hydatid cysts can be found in unusual localization. Th is case was managed laparoscopically.

Multilocular cystic renal cell carcinoma, miss-diagnosed clinically as renal hydatid

Multilocular cystic renal cell carcinoma [MCRCC] is a rare clear cell type of renal cell carcinoma. Although cytologyically and cytogenetically MCRCC is similar to clear cell carcinoma, histology and behavior differ markedly. Prognosis in MCRCC is excellent as the tumour is of consistently low grade and surgical resection is curative. We report here a case of MCRCC in 44 year old female presented with right loin pain, was miss-diagnosed as renal hydatid cyst for 2 years. Local excision of the tumor mass only was done with no recurrence after 30 months of follow up after. The differentiation between renal hydatid cyst and MCRCC may be difficult clinically and radiologically.The tumor grows very slowly.The outcome of the lesion is not affected adversely by large tumor size. There is an increasing belief that MCRCC should be renamed and reclassified to indicate much more favorable prognosis than the conventional clear renal cell carcinoma

Nefroma quístico en la infancia / Cystic nephroma in childhood

Nefroma quístico (NQ) es una lesión quística multilocular neoplásica del riñón que cae en un espectro de enfermedades. Existe cierto debate acerca de si estas lesiones representan un espectro de una enfermedad con una etiología común. Un quiste multilocular no es un segmento renal afectado por la enfermedad renal multiquística ya que estas condiciones difieren clínica, histológica y radiográficamente. Sin embargo, la controversia continua sobre si el quiste multilocular es una forma de displasia renal segmentaria. El nefroma quístico es una lesión renal característica con un comportamiento bimodal y un curso clínico benigno. Presenta un peak de distribución en los primeros 2 a 3 años, sobretodo en hombres y otro peak en la 4ª y 5ª década de la vida con un aumento significativo de su prevalencia en mujeres. El diagnóstico pre-operatorio preciso para diferenciar el NQ de otras entidades quísticas renales malignas puede ser imposible sólo con el examen clínico y radiológico; es la histopatología la que provee el diagnóstico final. Se hace una revisión del NQ con especial interés en la afectación en los pacientes pediátricos.

Cystic nephroma (NQ) is a multilocular cystic neoplasm of the kidney that falls on a spectrum of diseases. There is some debate about whether these lesions represent a spectrum of disease with a common etiology. A cyst is not multilocular renal segment affected by multicystic kidney disease because these conditions differ clinically, histologically and radiographically. However, the controversy continue over whether the multilocular cyst is a form of segmental renal dysplasia. Cystic nephroma is a renal lesion with characteristic bimodal behavior and a benign clinical course. Distribution presents a peak in the first 2 to 3 years, especially in men and another peak in the 4 th and 5 th decade of life with a significant increase in its prevalence in women. The accurate preoperative diagnosis to differentiate NQ from other malignant cystic kidney entities may not be possible only with the clinical and radiological examination, histopathology is that provided the final diagnosis. A review of NQ with emphasis on involvement in pediatric patients it is made.

Differential Diagnosis of Complex Renal Cysts Based on Lesion Size along with the Bosniak Renal Cyst Classification

PURPOSE: To identify size criteria for complex cystic renal masses that can distinguish renal cell carcinoma from benign cysts supplementing the Bosniak classification. MATERIALS AND METHODS: We reviewed the records of 97 patients who underwent surgery for complex cystic renal masses from January 2001 to April 2010. The pathological results were compared with the lesion sizes measured by preoperative computed tomography and other radiological features (contrast enhancement, irregularities of cyst walls and septa, and calcification) were also obtained for categorization according to the Bosniak renal cyst classification. RESULTS: Malignancy was significantly associated with cyst size (>2 cm), male gender, and younger patient age (<50 years). According to the Bosniak classification, there was no category I cyst, and all 8 category II cysts were benign. However, 3 of 18 (17%) category IIF cysts, 21 of 39 (54%) category III cysts, and 29 of 32 (90%) category IV cysts were malignant. All category IIF cysts were benign in patients older than 50 years of age. CONCLUSION: Many complex cystic renal masses smaller than 2 cm were benign. We suggest that lesion size should be taken into account when formulating treatment plans for complex cystic renal masses.

Doença cística da artéria poplítea: relato de caso / Cystic disease of the popliteal artery: a case report

Apesar de sua raridade, a doença cística da artéria poplítea (DCAP) deve ser lembrada no diagnóstico diferencial de claudicação intermitente de membros inferiores em pacientes jovens. A literatura brasileira apresenta poucos relatos dessa doença. Este trabalho reportou o caso de um paciente masculino portador de DCAP e revisou a literatura, traçando um paralelo com a síndrome de aprisionamento da artéria poplítea.

Although its rarity, the adventitial cystic disease of the popliteal artery (ACDPA) must be remembered in the differential diagnosis of intermittent claudication in young patient's lower limbs. Brazilian literature presents a few cases of this disease. This study is a case report of ACDPA in a male patient, with a literature review, comparing to popliteal artery entrapment syndrome.

Evaluation of acquired cystic kidney disease in patients on hemodialysis with ultrasonography

Acquired cystic kidney disease [ACKD] occurs in patients with prolonged uremia, and early detection is important, because clinically significant complications, especially renal cell carcinoma, are associated with ACKD. In a cross-sectional study, we evaluated our patients on hemodialysis, in Ahvaz, Iran, using ultrasonography. The criteria for the diagnosis of ACKD were the presence of at least 4 bilateral renal cysts in patients with noncystic primary kidney diseases as the leading cause of kidney failure. A total of 148 patients [95 men and 53 women] were included in the study. The prevalence of ACKD was 20.3% [18.9% in men and 22.6% in women]. The mean age in patients with and without ACKD was 60.6 +/- 16.8 years and 53.6 +/- 14.9 years, and the mean hemodialysis duration was 44.2 +/- 18.7 months and 34.3 +/- 23.5 months, respectively. There were no significant differences in the frequency of ACKD in the men and the women [P = .59] and in the etiology of end-stage renal disease [P = .64]. It was significantly more likely to see ACKD in patients with a history of 3 years or longer being on hemodialysis than in those with a shorter dialysis duration [P = .001]. Acquired cystic kidney disease is common in patients on hemodialysis, and we suggest that renal ultrasonography be performed in patients with 3 years or more history of being on renal replacement therapy

[Congenital hepatic fibrosis]

Congenital hepatic fibrosis [CHF] is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease. We present a 22 years old man with fever, abdominal pain, icterus and hematemesis. On complete work up of the patient and liver with kidney biopsy, the diagnosis was congenital hepatic fibrosis

[Lumboscopic treatment of simple renal cysts]

To assess feasibility and efficiency of lomboscopy in the treatment of simple renal cysts. We report 12 cases of patients presenting symptomatic simple renal cysts treated by lumboscopy from January 2000 to December 2004. The mean age was 57 years [43-72]. They were 11 women and one man. The main revealing sign was pain in each case. A mass was found in 2 cases [16%]. Ultrasonography was realized in all cases. Computed Tomography was realized in 4 cases [33%]. It was a unique cyst in 9 cases [75%], a double cysts in 2 cases [17%] and 4 cysts in 1 case [8%]. The mean size of the cysts was 7.7 cm [5-16]. A parapyelic cyst was found in one case. All the patients were operated through a retroperitoneal approach. Excision of cyst dome was made. The mean operating time was 80 mm [50-160]. No intraoperative complication was noted. The mean hospital stay was 3 days [1-4]. All the cysts were found to be benign histologically. No recurrence is noted with a mean follow-up of 21 months [5-31]. Lumboscopy is a safe and effective technique in the treatment of the symptomatic simple renal cysts with a low rate of complications and recurrence

Laparoscopic deroofing of larfe renal simple cysts causing gastric symptoms

Widespread use of ultrasonography and computerized tomography of the abdomen result in the detection of a large number of renal mass lesions. Most of these are simple renal cysts, which do not need any further evaluation or follow up unless symptomatic. Simple renal cysts can be diagnosed with certainty if the treating physician or surgeon is aware of these features and can avoid unnecessary urology referral, patient anxiety, inconvenience and expense. Symptomatic cysts and complex renal cysts need further evaluation and intervention. We present the case of large symptomatic renal cysts persisting after aspiration sclerotherapy, which were managed by deroofing the cyst laparoscopically. Laparoscopic deroofing is rapidly becoming accepted as the surgical intervention of choice for symptomatic renal cysts persisting after aspiration sclerotherapy

Quiste renal infectado: caso clínico y revisión de la literatura / Renal cyst infected: case report and revision

We describe a case of a 29 years old woman with an infected simple renal cyst in which no etiologic agent was found. The diagnose was made by cystic fluid aspiration. Antibiotic therapy by itself was not enough to control the infection and a percutaneous drainage was performed with rapidly normalization of the inflammatory parameters. The case is presented and a literature review on simple renal cyst is made.

Twins with senior-Loken syndrome.

Senior-Loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. The eye disease may be congenital amaurosis of Leber type or pigmentary retinal degeneration and electroretinogram (ERG) helps in the diagnosis of these varieties. The disease progresses inexorably to chronic renal failure. Here is a case of twins with Senior-Loken syndrome emphasizing the importance of ophthalmic examination in children with renal failure, for determining a correct diagnosis.

Quiste multilocular del riñón: presentación de un caso / Multilocular renal cyst: a case report

Presentamos un nuevo caso de quiste multilocular del riñón en el adulto. Esta entidad es sumamente rara y se plantean varias hipótesis sobre su origen. El riñón no tiene configuración reniforme: típicamente el riñón tiene la apariencia de un racimo de uvas, sin estroma entre los quistes. El tamaño renal es muy variable, pero en ocasiones llega a ser una gran masa que ocupa la mayor parte del abdomen. Se plantea que la diferencia entre esta entidad benigna y los tumores renales intraquíticos solo se puede establecer mediante estudios minuciosos de la pieza anatómica. Se revisa la literatura encontrada sobre el tema y se comenta la problemática en torno al diagnóstico y a las posibilidades terapéuticas(AU)

We present a new case of cyst multilocular of the kidney in the adult. This entity is extremely strange and they think about several hypothesis on its origin. The kidney doesn't have configuration reniforme: typically the kidney has the appearance of a cluster of grapes, without estroma among the cysts. The renal size is very variable, but in occasions it ends up being a great mass that occupies most of the abdomen. He/she thinks about that the difference between this benign entity and the tumors renal alone intraquíticos can settle down by means of meticulous studies of the anatomical piece. The opposing literature is revised on the topic and the problem is commented around the diagnosis and to the therapeutic possibilities(AU)

Diagnostic significance of excretory urography and ultrasonography in renal diseases.

A comparative study of intravenous urography (IVU) and ultrasonography (USG) was performed in 100 patients of all age groups, having symptoms and signs of various renal diseases. Sonography was found to be 100% sensitive and diagnostic in approximately 74% of renal pathologies included in this study, namely calculous disease (excluding midureteric calculi), obstructive lesions of pelvicalyceal system (PCS), cystic diseases, gross congenital lesions, traumatic lesions and neoplasms. It also provided information about the complications of long standing obstruction to PCS such as non-functional and atrophied kidneys, infection, etc. IVU proved better in midureteric calculi (100%), 88.2% of all congenital lesions including the major as well as minor variations. Both modalities proved to be of poor help in diffuse parenchymal diseases (IVU-40% and USG-50%) and renal tuberculosis (IVU-18.2% and USG-45.5%). Sonography was able to delineate the cause of obstruction to PCS in only 72.3% of cases as compared to 88% by IVU.

Simple renal cyst: an observation.

In the present study 1500 patients having abdominal ultrasonography were included. Unsuspected renal cysts were detected in 76 patients (5.06%). The age range was between 8 and 86 years with a maximum incidence being at 41-60 years age group. These asymptomatic cysts were observed commonly in the upper pole of right kidney. Incidence as well as size increased with age. Usually these cysts do not require any surgical intervention unless complicated.

Doença renal cística adquirida em pacientes com insuficiência renal crônica em tratamento conservador e em hemodiálise / Acquired cystic renal disease in patient with chronic kidney failure in the conservative treatment and in hemodialysis

A doença renal cística adquirida (DRCA) acomete os pacientes em hemodiálise (HD) de manutençäo numa incidência aproximada de 50 por cento, com uma relaçäo direta com o maior tempo em diálise e uma maior propensäo para neoplasias renais. No presente estudo, avaliamos a incidência da DRCA em nossa populaçäo de pacientes em tratamento conservador e em HD, visando a detecçäo de cistos renais atípicos, sugestivos de neoplasia, através de ultra-som (US), tomografia computadorizada (TC) e ressonância magnética (RM) renais. Os resultados mostraram uma predominância da DRCA no grupo de pacientes en HD (54,9 por cento x 28,2 por cento, P<0,05), com maior tempo de tratamento diatítico (ò36 meses), sem relaçäo direta com sexo, raça e etiologia da doença renal, sendo que a presença de cisto renal atípico näo foi evidenciada em nenhum paciente dos dois grupos. Desta forma, a DRCA é uma entidade clínica importante, destacando-se a importância de um seguimento radiológico regular, que permitiria o diagnóstico de cistos renais de caráter neoplásico, favorecendo uma terapêutica precoce e uma melhor sobrevida destes pacientes.