Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia最新文献_第9页

[Type I Hyperprolinemia - What about the Kidney?] [I 型高脯氨酸血症--肾脏怎么办？］

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-12-22

Manuela Rizzo, Maria Amicone, Maria Luigia Sellitti, Antonella Marino, Anna Sannino, Ivana Capuano, Antonio Pisani

{"title":"[Type I Hyperprolinemia - What about the Kidney?]","authors":"Manuela Rizzo, Maria Amicone, Maria Luigia Sellitti, Antonella Marino, Anna Sannino, Ivana Capuano, Antonio Pisani","doi":"","DOIUrl":"","url":null,"abstract":"Hyperprolinemia is a rare genetic condition due to mutations in proline metabolic pathway. Type I Hyperprolinemia (HPI) typically causes neuropsychiatric disorders, and diagnosis is usually confirmed in pediatric population with suggestive neuropsychiatric involvement by elevated serum proline levels and elevated urinary proline, hydroxyproline, and glycine levels. The possible coexistence of nephropathy in patients with HPI, often specified as malformative urinary disease, is often mentioned. However, reports of HPI diagnosis due to kidney impairment do not exist in scientific literature yet. Here we present the case of a patient presenting with chronic kidney disease secondary to obstructive nephropathy who received a HPI diagnosis in adulthood. Interestingly, the family study showed the same 22q11.21 deletion and elevated blood proline levels in the father, who had no clinical anomalies. We therefore suggest, in light of the high frequency of mutations involving 22q11 and PRODH in the general population, to consider these rare alterations in patients with congenital urinary malformations, even in the presence of nuanced neurological symptoms and negative family history.","PeriodicalId":12553,"journal":{"name":"Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia","volume":"40 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Contrast Induced Encephalopathy after carotid percutaneous transluminal angioplasty in a patient with end stage renal disease undergoing peritoneal Dialysis]. [终末期肾病行腹膜透析患者颈动脉经皮腔内血管成形术后造影剂所致脑病]。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Maria Mattiotti, Sabrina Milan Manani, Maddalena Gnappi, Grazia Maria Virzì, Matteo Marcello, Davide Marturano, Ilaria Tantillo, Anna Giuliani, Gaetano La Manna, Claudio Ronco, Monica Zanella

{"title":"[Contrast Induced Encephalopathy after carotid percutaneous transluminal angioplasty in a patient with end stage renal disease undergoing peritoneal Dialysis].","authors":"Maria Mattiotti, Sabrina Milan Manani, Maddalena Gnappi, Grazia Maria Virzì, Matteo Marcello, Davide Marturano, Ilaria Tantillo, Anna Giuliani, Gaetano La Manna, Claudio Ronco, Monica Zanella","doi":"","DOIUrl":"","url":null,"abstract":"Introduction. Contrast Induced Encephalopathy (CIE) belongs to Major Adverse Renal and Cardiovascular Events (MARCE) after iodinated contrast medium (IOCM), especially for high-risk patients with several comorbidities such as hypertension, diabetes, heart failure, and Chronic Kidney Disease (CKD). We report a case of CIE in a Peritoneal Dialysis (PD)-patient. Case report. A 78-year-old, affected by diabetes, hypertension, chronic heart failure, and End Stage Renal Disease (ESRD) treated with PD, underwent a carotid Percutaneous Angioplasty (PTA). Immediately after the exam, he developed mental confusion and aphasia. Encephalic CT scan and MRI excluded acute ischemia or hemorrhage but showed cerebral oedema. Mannitol and steroids were administered and additional PD exchange was performed with depurative aim. Within 2 days the patient completely recovered. Discussion. CIE mimics severe neurological diseases. It should be considered as a differential diagnosis if symptoms occur immediately after administration of IOCM, especially in high-risk patients and in case of intra-arterial injection. Clinical presentation includes transient cortical blindness, aphasia, focal neurological defects, and confusion. CIE is often a diagnosis of exclusion, and imaging plays a significant role. Symptoms generally resolve spontaneously within 24-48h, rarely in few days. Symptomatic therapy, including mannitol and steroids could be considered. In literature, CIE is reported only in a few patients affected by ESRD treated with chronic HD, and our is the first available case of a patient treated with chronic PD who developed this rare complication.","PeriodicalId":12553,"journal":{"name":"Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia","volume":"40 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138444444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene. 常染色体显性小管间质肾病:一种新的UMOD基因变异病例报告。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Juan Guillermo Cárdenas Aguilera, Lizeth Daniela Figueredo Rodriguez, Kelly Rocio Chacón Acevedo, Ana María Zarante Bahamón, Juan Carlos Prieto

{"title":"Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene.","authors":"Juan Guillermo Cárdenas Aguilera, Lizeth Daniela Figueredo Rodriguez, Kelly Rocio Chacón Acevedo, Ana María Zarante Bahamón, Juan Carlos Prieto","doi":"","DOIUrl":"","url":null,"abstract":"Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a low-prevalence pathology mainly associated with pathogenic variants of the UMOD gene. It is characterized by the progressive deterioration of renal function, associated with hyperuricemia and accompanied by a family history of gout or hyperuricemia. Often, clinical variability and a lack of molecular testing results in diagnostic failure to determine the ADTKD-UMOD association. Case presentation: We describe the case of a 14-year-old male who presented to the nephrology service with hyperuricemia, renal ultrasonographic changes, and progression to chronic kidney disease in 4 years. He had a family history of hyperuricemia. A probable genetic disease with an autosomal dominant inheritance pattern was considered, confirmed by the presence of a probably pathogenic variant of the UMOD gene, not previously reported in the literature. Conclusion: The investigation of this case led to the identification of a new variant in the UMOD gene, broadening the spectrum of known variants for ADTKD-UMOD. In addition, in this case, a comprehensive anamnesis, that takes into account family history, was the key point to carry out genetic tests that confirmed the diagnosis suspicion. Directed Genetic tests are currently an essential diagnostic tool and should be performed as long as they are available and there is an indication to perform them.","PeriodicalId":12553,"journal":{"name":"Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia","volume":"40 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138444452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Lo stato dell'arte]. [最先进的]。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Gaetano La Manna

引用次数: 0

[The Educational Aspect in Promoting a Low-Sodium Diet, Physical Activity and Therapy Adherence among Patients with Autosomal Dominant Polycystic Disease: A Literature Review]. 【在常染色体显性多囊病患者中推广低钠饮食、体育活动和治疗依从性的教育方面:文献综述】。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Elena Brioni, Giulia Villa, Duilio Fiorenzo Manara, Sara Farinone, Cristiano Magnaghi, Davide Scuratti, Dina Moranda, Emanuele Galli, Maria Teresa Sciarrone, Giuseppe Vezzoli

{"title":"[The Educational Aspect in Promoting a Low-Sodium Diet, Physical Activity and Therapy Adherence among Patients with Autosomal Dominant Polycystic Disease: A Literature Review].","authors":"Elena Brioni, Giulia Villa, Duilio Fiorenzo Manara, Sara Farinone, Cristiano Magnaghi, Davide Scuratti, Dina Moranda, Emanuele Galli, Maria Teresa Sciarrone, Giuseppe Vezzoli","doi":"","DOIUrl":"","url":null,"abstract":"Background. Polycystic kidney disease (ADPKD) is the most common monogenic cause of End Stage Renal Disease (ESRD), and, thus, of kidney transplantation and dialysis. Educational interventions aimed to improve adherence to therapy, physical performance, and adequate food intake in patients can slow down disease progression by developing self-care skills, which are useful to promote their autonomy while aligning their life plans and required treatments. The aim of this review is to analyze the adherence of patients with polycystic kidney to pharmacological therapy, low-sodium diet, and physical activity, as evidenced in the clinical literature to guide structured educational interventions. Methods. We conducted a literature review from 01/09/2021 to 30/12/2022 through the combination of free keywords and MeSH terms on the databases: PubMed, CINAHL and Cochrane. Results. Findings in medical literature show that physical activity can improve blood pressure control and a low-sodium diet can slow down the progression towards ESRD. Furthermore, although patients may adhere to the complex drug therapy, unresolved educational demands concern choices and behaviors of daily life that, involving the sphere of feelings and emotions, can evolve into manifestations of anxiety and stress. Conclusion. Among ADPKD patients a personalized educational support, considering disease stage and psychological factors, may enable them to acquire knowledge, skills, and behaviors that can improve clinical outcomes.","PeriodicalId":12553,"journal":{"name":"Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia","volume":"40 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138444451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Kidney Transplant in a Highly Sensitized Patient Treated with Imlifidase]. 【一名高度敏化患者接受Imlifidase治疗的肾移植】。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Lorenzo D'Elia, Luciano Cencioni, Francesca Ciabattini, Luca D'Argenzio, Paola Vittoria Santirosi

引用次数: 0

[Management of the Central Venous Catheter in Patients Undergoing Hemodialysis Treatment]. [血液透析患者中心静脉导管的管理]。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Sonia Sellami, Daniele Pandolfi, Luigi Apuzzo

引用次数: 0

[New Therapeutic Strategies in the Treatment of CKD Anemia: Hypoxia-Induced Factor Prolyl-Hydroxylase Inhibitors]. [治疗慢性肾病贫血的新治疗策略:缺氧诱导因子脯氨酸-羟化酶抑制剂]。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Marco Taurisano, Paolo Protopapa, Silvia Barbarini, Andrea Mancini, Cosma Cortese, Marcello Napoli

{"title":"[New Therapeutic Strategies in the Treatment of CKD Anemia: Hypoxia-Induced Factor Prolyl-Hydroxylase Inhibitors].","authors":"Marco Taurisano, Paolo Protopapa, Silvia Barbarini, Andrea Mancini, Cosma Cortese, Marcello Napoli","doi":"","DOIUrl":"","url":null,"abstract":"The link between chronic renal failure and anemia has been known for more than 180 years, negatively impacting the quality of life, cardiovascular risk, mortality, and morbidity of patients with chronic kidney disease (CKD). Traditionally, the management of anemia in CKD has been based on the use of replacement martial therapy, vitamin therapy, and the use of erythropoiesis-stimulating agents (ESAs). In recent years, alongside these consolidated therapies, new molecules known as hypoxia-induced factor prolyl-hydroxylase inhibitors (HIF-PHIs) have appeared. The mechanism of action is expressed through an increased transcriptional activity of the HIF gene with increased erythropoietin production. The drugs currently produced are roxadustat, daprodustat, vadadustat, molidustat, desidustat, and enarodustat; among these only roxadustat is currently approved and usable in Italy. The possibility of oral intake, pleiotropic activity on martial and lipidic metabolism, and the non-inferiority compared to erythropoietins make these drugs a valid alternative to the treatment of anemia associated with chronic kidney disease in the nephrologist practice.","PeriodicalId":12553,"journal":{"name":"Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia","volume":"40 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138444449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Collapsing Glomerulopathy Secondary to Anabolic Steroids for Bodybuilding: A Case Series]. [健身用合成代谢类固醇继发的塌陷肾小球病:一个病例系列]。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Roberta Passaro, Pierluigi D'Angiò, Simona Laurino, Giuseppe Gigliotti, Antonio Massa, Antonio Mancini, Annalisa Gonnella, Anna Giammarino, Gianmarco Borriello

引用次数: 0

[The Early Years of Nephrology at Molinette Hospital in Turin Told by Those Who Lived and Built Them]. [都灵Molinette医院早期肾病学的生活和建造者讲述]。

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia Pub Date : 2023-10-26

Piero Stratta, Sandro Alloatti, Giuseppe Segoloni, Michele Rotunno, Giorgio Triolo, Margherita Dogliani, Giovanni Mangiarotti, Caterina Canavese, Giovanni B Fogazzi

引用次数: 0