- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- Polycystic kidney disease (ADPKD) is an autosomal dominant disorder. It's a multisystemic and progressive disease with cysts formation and kidney enlargement along with other organ involvement (e.g. ...
Polycystic kidney disease (ADPKD) is an autosomal dominant disorder. It's a multisystemic and progressive disease with cysts formation and kidney enlargement along with other organ involvement (e.g. liver, pancreas, spleen). In the adult population, it is the most frequent genetic cause of renal failure with 6-8% of patients on dialysis in the US. By the age of 60 years 50% of them need renal replacement therapy. Cysts may be detected in childhood or in utero but clinical manifestations appear in the third or fourth decade of life.
- Minimally Invasive Management of Zinner's Syndrome with Same-Session Robot-Assisted Seminal Vesiculectomy and Ipsilateral Nephroureterectomy Using a Single Geometry of Trocars. [Journal Article]
- JEJ Endourol Case Rep 2018; 4(1):186-189
- Background: Seminal vesicle cyst is an extremely rare condition, which is frequently congenital and associated with Zinner's syndrome. This syndrome represents a constellation of seminal vesicle cys...
Background: Seminal vesicle cyst is an extremely rare condition, which is frequently congenital and associated with Zinner's syndrome. This syndrome represents a constellation of seminal vesicle cyst, ipsilateral or contralateral renal agenesis or renal dysplasia, ureteral ectopia, and ejaculatory duct obstruction. We report a young symptomatic patient undergoing robot-assisted laparoscopic excision of a huge seminal vesicle cyst during which an atrophic ipsilateral kidney was discovered incidentally and managed by nephroureterectomy in the same session without changing trocar positions. Case Presentation: A 23-year-old male patient presented with a 2-year history of lower urinary tract symptoms, perineal pain, and recurrent urinary tract infections. Ultrasonography revealed the absence of left kidney and a fluid-filled cystic lesion located behind the bladder on the left side, which was consistent with cystic dilatation of the left seminal vesicle. MRI confirmed the diagnosis of a huge cystic structure originating from the left seminal vesicle and identified the presence of a rudimentary left ureter without an associated renal unit. Cystoscopy revealed bulging of the bladder neck at 6 o'clock position and the ureteral orifices at normal positions and configurations. Based on these findings, the clinical diagnosis was established as Zinner's syndrome. The present case was performed by Da Vinci Si robotic platform using the 5-trocar technique. Conclusion: Robot-assisted laparoscopic excision is a safe and feasible option to treat large seminal vesicle cysts, which may be a component of Zinner's syndrome. Simultaneous upper urinary tract interventions, such as nephroureterectomy, can be employed by redocking the robot and repositioning the patient, using the same layout of robotic trocars.
- Incidental Renal Lesions on Lumbar Spine MRI: Who Needs Follow-Up? [Journal Article]
- AAAJR Am J Roentgenol 2018 Nov 07; :1-5
- CONCLUSIONS: Follow-up imaging may not be required in all cases of incidentally discovered renal lesions on lumbar spine MRI. Analysis of T2-weighted imaging alone appears to reliably rule out neoplastic and potentially neoplastic complex renal lesions.
- Identifying Cystogenic Paracrine Signaling Molecules in Cyst Fluid of Patients with Polycystic Kidney Disease. [Journal Article]
- AJAm J Physiol Renal Physiol 2018 Nov 07
- In autosomal dominant polycystic kidney disease (ADPKD) paracrine signaling molecules in cyst fluid can induce proliferation and cystogenesis of neighboring renal epithelial cells. However, the ident...
In autosomal dominant polycystic kidney disease (ADPKD) paracrine signaling molecules in cyst fluid can induce proliferation and cystogenesis of neighboring renal epithelial cells. However, the identity of this "cyst inducing factor" is still unknown. The aim of this study was to identify paracrine signaling proteins in cyst fluid using an 3D in vitro cystogenesis assay. We collected cyst fluid from 15 ADPKD patients who underwent kidney or liver resection (55 cysts from 13 nephrectomies, 5 cysts from 2 liver resections). For each sample, the ability to induce proliferation and cyst formation was tested using the cystogenesis assay (RPTEC/TERT1 cells in Matrigel with cyst fluid added for 14 days). Kidney cyst fluid induced proliferation and cyst growth of renal epithelial cells in a dose-dependent fashion. Liver cyst fluid also induced cystogenesis. Using size exclusion chromatography, 56 cyst fluid fractions were obtained of which only the fractions between 30-100 kDa showed cystogenic potential. Mass spectrometry analysis of samples that tested positive or negative in the assay identified 43 candidate cystogenic proteins. GO analysis showed an enrichment for proteins classified as enzymes, immunity proteins, receptors and signaling proteins. A number of these proteins have previously been implicated in ADPKD, including Secreted Frizzeld-Related Protein 4, S100A8, osteopontin, and CRELD1. In conclusion, both kidney and liver cyst fluids contain paracrine signaling molecules that drive cyst formation. Using size exclusion chromatography and mass spectrometry, we procured a candidate list for future studies. Ultimately, cystogenic paracrine signaling molecules may be targeted to abrogate cystogenesis in ADPKD.
- Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. [Journal Article]
- EJEur J Med Genet 2018 Oct 28
- Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examinat...
Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutation in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], was detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for kidney examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in a same population, and describe, for the first time, a founder mutation for FAM20A.
- The deubiquitinating enzyme USP14 controls ciliogenesis and hedgehog signalling. [Journal Article]
- HMHum Mol Genet 2018 Nov 01
- Primary cilia are hair-like organelles that play crucial roles in vertebrate development, organogenesis, and when dysfunctional result in pleiotropic human genetic disorders called ciliopathies, char...
Primary cilia are hair-like organelles that play crucial roles in vertebrate development, organogenesis, and when dysfunctional result in pleiotropic human genetic disorders called ciliopathies, characterized byoverlapping phenotypes, such as renal and hepatic cysts, skeletal defects, retinal degeneration, and CNS malformations. Primary cilia act as communication hubs to transfer extracellular signals into intracellular responses and are essentialfor Hedgehog (Hh) signal transduction in mammals. Despite the renewed interest in this ancient organelle of growing biomedical importance, the molecular mechanisms that trigger cilia formation, extension and ciliary signal transduction are still not fully understood. Here we provide, for the first time, evidence that the deubiquitinase Usp14, a major regulator of the ubiquitin proteasome system (UPS), controls ciliogenesis, cilia elongation and Hh signal transduction. Moreover, we show that pharmacological inhibition of Usp14 positively affects Hh signal transduction in a model ofautosomal dominant polycystic kidney disease (ADPKD).These findings provide new insight into the spectrum of action ofUPS in cilia biology and may provide novel opportunities for therapeutic intervention in human conditions associated with ciliary dysfunction.
- Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features. [Journal Article]
- JMJ Med Genet 2018 Nov 01
- CONCLUSIONS: Worsening severity with successive generations may be observed in Copa syndrome. Extrapulmonary cysts, malignancies, autoimmune neurological disorders and infections are clinical features that may be associated with Copa syndrome. Further studies are indicated to fully define the phenotypic spectrum of this disorder.
- Native T1 Mapping as an In Vivo Biomarker for the Identification of Higher-Grade Renal Cell Carcinoma: Correlation With Histopathological Findings. [Journal Article]
- IRInvest Radiol 2018 Oct 30
- CONCLUSIONS: Native T1 mapping could represent an in vivo biomarker for the differentiation of lower- and higher-grade cRCCs, providing incremental diagnostic value beyond qualitative magnetic resonance imaging features.
- Adventitial cystic disease of the radial artery. [Journal Article]
- JVJ Vasc Bras 2018 Apr-Jun; 17(2):160-164
- Adventitial cystic disease (ACD) of the radial artery is a rare condition, with few cases described in the literature. We report the case of a 62-year-old white male with a history of diabetes, hyper...
Adventitial cystic disease (ACD) of the radial artery is a rare condition, with few cases described in the literature. We report the case of a 62-year-old white male with a history of diabetes, hypertension, and chronic kidney disease with indications for renal replacement therapy who was found to have a cystic lesion of the radial artery while undergoing surgical creation of an arteriovenous fistula. The surgical technique adopted was resection of the cystic segment and preservation of the radial artery. Fistula creation was completed successfully. Early diagnosis and appropriate treatment of ACD are effective, and can prevent complications and recurrence.
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- Polycystic Kidney-like Disease in a Red-ear Slider Turtle (Trachemys scripta elegans). [Journal Article]
- JCJ Comp Pathol 2018; 164:44-47
- A 14-year-old red-ear slider turtle (Trachemys scripta elegans) with no history of pre-existing clinical disease died and was referred for necropsy examination. Grossly, oesophageal prolapse, bilater...
A 14-year-old red-ear slider turtle (Trachemys scripta elegans) with no history of pre-existing clinical disease died and was referred for necropsy examination. Grossly, oesophageal prolapse, bilateral renal cysts and a paraduodenal cystic mass were detected. Tissues were processed routinely for histology and immunohistochemistry (IHC) with primary antibodies specific for Wilm's tumour suppressor gene-1 (WT-1), insulin, glucagon and pancytokeratins. Microscopically, renal medullary cysts and medullary atrophy resembled the changes associated with polycystic kidney disease (PKD). The cysts of the paraduodenal mass were lined by ciliated epithelial cells resembling embryonal cells and were intensely positive for glucagon and insulin by IHC. There was no cytokeratin expression in either lesion. WT-1 expression in the paraduodenal mass was cytoplasmic and appeared non-specific. Lesions were consistent with renal PKD-like disease and a pancreatic cystic hamartoma.