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Genes & Diseases 2024年第4期11卷 106-108页

作者： Gloria Garavito-De Egea Alex Dominguez-Vargas Jorg e l.Velez Gustavo Aroca Luis Fagng Elkin Navarro-Quiroz Zilac Espitaleta Kenny Del Toro-Camargo Leticia Martinez-Ariza Tatiana Gonzalez-Vargas Susana Garcia Mauricio Arcos-Burgos Eduardo Egea Universidad del Norte Division Ciencias de la SaludBarranquillaColombia Universidad Simon Bolivar Facultad de Ciencias de la SaludBarranquillaColombia Clinica de la Costa Grupo de Investigacion en NefrologiaBarranquillaColombia Universidad de Antioquia Grupo de Investigacion en Psiquiatria(GIPSI)Departamento de PsiquiatriaInstituto de Investigaciones MedicasFacultad de MedicinaMedellinColombia

Genome-wide association studies(GWASs)have identified hundreds of loci across the human genome conferring susceptibility to autoimmune diseases(AIDs),some of which are shared between more than two diseases.However,thi... 详细信息

关键词： susceptibility diseases diabetes

Haplotype analysis of CLDN19 single nucleotide polymorphisms in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

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World Journal of Pediatrics 2015年第3期11卷 272-275页

作者： Ernesto Martin-Nunez Elizabeth Cordoba-Lanus Hilaria Gonzalez-Acosta Aniana Oliet Elvira Izquierdo Felix Claverie-Martin Unidad de Investigacion Hospital Nuestra Senora de CandelariaSanta Cruz de TenerifeSpain Servicio de nefrologia Hospital Severo OchoaMadridSpain nefrologia infantil Hospital General Gregorio MaranonMadridSpain

Background:Familial hypomagnesemia with hypercalciuria and nephrocalcinosis(FHHNC)is an autosomal recessive tubular disease caused by mutations in the CLDN16 or CLDN19 gene.Previous studies using microsatellite markers flanking the CLDN19 locus estimated that p.G20D(c.59G>A),a recurrent mutation in Spanish families,is a founder mutation.In the present study,we assessed the haplotype of Spanish patients using single nucleotide polymorphisms(SNPs).Methods:Twenty-seven FHHNC patients were included in this study.We analyzed four SNPs located in CLDN19 introns 3 and 4 by polymerase chain reaction amplification and DNA sequencing.Results:Three new patients with homozygous p.G20D were identified.The SNP genotyping analysis showed that alleles carrying this mutation shared a common SNP haplotype.Conclusions:Our findings suggest the existence of a founder effect responsible for FHHNC in our cohort.Testing for the presence of mutation p.G20D should be the first genetic screening in Spanish patients.

关键词： chronic kidney disease founder effect gene mutation nephrocalcinosis

Diagnosis of acute intermittent porphyria in a renal transplant patient:A case report

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World Journal of Transplantation 2022年第1期12卷 8-14页

作者： Cristina Sirch Niloufar Khanna Lynda Frassetto Francesco Bianco Mary Louise Artero nefrologia e Dialisi Azienda Sanitaria Universitaria Giuliano IsontinaTrieste 34100Italy Medicine California Northstate UniversityElk GroveCA 95757United States Internal Medicine Division of NephrologyUniversity of California San FranciscoSan FranciscoCA 94193United States

BACKGROUND Acute intermittent porphyria(AIP)is an inherited disorder of porphyrin metabolism with a worldwide distribution and a prevalence ranging from 1 to 9 per million population.AIP is caused by an autosomal dominant-inherited mutation of low penetrance resulting in a deficiency of porphobilinogen deaminase(PBGD)activity.Acute attacks are provoked by stressors such as certain medications,alcohol,and infection.We herein present the first case report of AIP detected in a post-renal transplant patient.CASE SUMMARY The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephropathy.He subsequently developed diabetes mellitus which required insulin therapy.He had been treated in the recent past with local mesalamine for proctitis.He presented with classic but common symptoms of AIP including intense abdominal pain,hypertension,and anxiety.He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained.His urinary postprandial blood glucose level was 60 mg/24 h(normal,<2 mg/24 h).He was placed on a high carbohydrate diet,and his symptoms slowly improved.CONCLUSION This case report describes a common presentation of an uncommon disease,in which post-transplant complications and medications may have contributed to precipitating the previously undiagnosed AIP.We hypothesize that the lowcarbohydrate diet and insulin with which our patient was treated may have led to the attacks of AIP.Alternatively,our patient’s mesalamine treatment for proctitis may have led to an acute AIP crisis.A high index of suspicion is needed to consider the diagnosis of a heme synthesis disorder,which presents with the common symptoms of abdominal pain,high blood pressure,and anxiety.

关键词： Acute intermittent porphyria Post-transplantation diabetes Mesalamine Tacrolimus Renal transplantation Case report

Multiple immune disorders in unrecognized celiac disease:a case report

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World Journal of Gastroenterology 2003年第6期9卷 1377-1380页

作者： Giorgio LaVilla Pietro Pantaleo Roberto Tarquini Lino Cirami Federico Perfetto Francesco Mancuso Giacomo Laffi Dipartimento di Medicina Interna Università degli Studi di FirenzeFirenzeItalia Unità Operativa di nefrologia Dialisi e TrapiantoAzienda Ospedaliera CareggiFirenzeItalia

We reported a female patient with unrecognized celiac disease and multiple extra intestinal manifestations, mainly related to a deranged immune function, including macroamilasemia, macrolipasemia, IgA nephropathy,thyroiditis, and anti-b2-glicoprotein-1 antibodies, that disappeared or improved after the implementation of a gluten-free diet.

关键词：腹部疾病免疫功能紊乱临床表现实验室检查病例报告

Impact of contrast-enhanced ultrasound in patients with renal function impairment

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World Journal of Radiology 2017年第1期9卷 10-16页

作者： Rossano Girometti Tiziano Stocca Elena Serena Antonio Granata Michele Bertolotto Institute of Diagnostic Radiology Department of Medical and Biological SciencesUniversity of UdineUniversity Hospital 'S. Maria della Misericordia' S.O.C. Radiologia San Giovanni di Dio Hospital Department of Radiology University of TriesteCattinara Hospital UOC di nefrologia-Dialisi 'San Giovanni di Dio' Hospital

AIM To investigate the role of contrast enhanced ultrasound(CEUS) in evaluating patients with renal function impairment(RFI) showing:(1) acute renal failure(ARF) of suspicious vascular origin; or(2) suspicious renal lesions.METHODS We retrospectively evaluated patients addressed to CEUS over an eight years period to rule-out vascular causes of ARF(first group of 50 subjects) or assess previously found suspicious renal lesions(second group of 41 subjects with acute or chronic RFI). After preliminary grey-scale and color Doppler investigation, each kidney was investigated individually with CEUS, using 1.2-2.4 m L of a sulfur hexafluoride-filled microbubble contrast agent. Image analysis was performed in consensus by two readers who reviewed digital clips of CEUS. We calculated the detection rate of vascular abnormalities in the first group and performed descriptive statistics of imaging findings for the second group.RESULTS In the first group, CEUS detected renal infarction orcortical ischemia in 18/50 patients(36%; 95%CI: 23.3-50.9) and 1/50 patients(2%; 95%CI: 0.1-12), respectively. The detection rate of infarction was significantly higher(P = 0.0002; Mc Nemar test) compared to color Doppler ultrasonography(10%). No vascular causes of ARF were identified in the remaining 31/50 patients(62%). In the second group, CEUS detected 41 lesions on 39 patients, allowing differentiation between solid lesions(21/41; 51.2%) vs complex cysts(20/41; 48.8%), and properly addressing 15/39 patients to intervention when feasible based on clinical conditions(surgery and cryoablation in 13 and 2 cases, respectively). Cysts were categorized Bosniak Ⅱ, ⅡF, Ⅲ and Ⅳ in 8, 5, 4 and 3 cases, respectively. In the remaining two patients, CEUS found 1 pseudolesion and 1 subcapsular hematoma.CONCLUSION CEUS showed high detection rate of renal perfusion abnormalities in patients with ARF, influencing the management of patients with acute or chronic RFI and renal masses throughout their proper characterization.

关键词：提高对比的 ultrasonography 肾的功能缺陷尖锐肾的失败肾的梗塞肾的损害肾的包囊 Bosniak 分类

Chronic Meningococcemia

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Advances in Infectious Diseases 2016年第3期6卷 97-101页

作者： Rita Veiga Ferraz Filipa Ceia Raquel Duro Ana Cláudia Carvalho Paulo Andrade Susana Silva António Sarmento Infectious Diseases Department Instituto de Inovacao e Investigacao em Saúde (I3S) Grupo de I&D em Nefrologia e Doencas Infeciosas Instituto Nacional de Engenharia Biomédica (INEB) Centro Hospitalar de Sao Joao Porto Portugal

Neisseria meningitidis is a gram-negative diplococcus which causes invasive disease. The most frequent clinical manifestations caused by infection with this pathogen, are meningitis and fulminant septic shock. More benign forms with a subacute or chronic pattern are rare but still can evolve to meningitis and have a fatal outcome. This entity is difficult to recognize, as febrile erythema with otherwise good general condition may simulate other diseases, namely viral infections. The authors reported the cases of two healthy young adults who were misdiagnosed with a viral infection. What they really had was a meningococcemia without meningitis presenting with mild and unspecific symptoms, such as, intermittent fever and a discrete macular rash. We pretend to highlight this rare, unspecific and heterogeneous symptoms which can provoke negligence of a potentially life threatening condition.

关键词： Neisseria meningitidis Meningococcal Disease Chronic Meningococemia

Signaling Pathway of LDL and oxLDL to Induce Renal Tubular Epithelial Cell Transdifferentiation

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器官移植内科学杂志 2008年第3期3卷 118-122页

作者： Hequn Zou Guoqin Wang Min Li Maria Pia Rastaldi Guiseppe D ＇Amico Department of Nephrology The Fifth Affiliated Hospital of Sun Yat-Sen University Zhuhai 519000 P.R.China Renal Immunopathology Laboratory Fondazione DAmico per la Ricerca sulle Malattie Renali and Associazione Nuova Nefrologia c/o San Carlo Borrorneo Hospital Milan 20153 Italy.

Objective To explore whether LDL and oxLDL may induce kidney tubular epithelial-mesenchymal transition (EMT) and the effect of ERK1/2MAPK signaling pathway on the mechanism of human renal tubular EMT induced by LDL and oxLDL. Methods The second generation of human kidney tubular epithelial cells (TECs) were cultured for 24 hours in different conditions as:serum free as control; treated with LDL (50μg/ml); treated with oxLDL (50μg/ml); treated with LDL (50μg/ml) plus PD98059 (5μmlo/L); treated with oxLDL (50μg/ml) plus PD98059 (5μmol/L). The expression of cytokeratin, E-cadherin,α-SMA and vimentin was assessed by immunofluorescence and Western-blot. Western-blot was also performed to test the expression of collagen I and phosphoERK1/2MAPK and phospho-GSK-3βResults oxLDL was more potently in inducing tubular EMT than LDL at 24 hours as demonstrated by de novoα-SMA expression, increased expression of vimentin, the partial loss of cytokeratin and reduction of E-cadherin expression by TECs. The expression of collagen I and phospho-ERKl /2MAPK and phospho-GSK-3βwas increased in TECs stimulated by LDL or oxLDL. MAPK inhibitor (PD98059) inhibited the phosphorylation of GSK-3βand almost completely blocked oxLDL-induced tubular EMT. However, PD98059 alone was able to inhibit LDL-induced tubular EMT partially. Conclusion It is indicated that oxLDL is more potently in inducing tubular EMT than LDL and the ERKI/2MAPK-GSK-3βsignaling pathway might be involved in the mechanism of either LDL or oxLDL-induced tubular EMT.

关键词：低密度脂蛋白肾小管上皮细胞治疗方法肾病

Vascular calcification,bone and mineral metabolism after kidney transplantation

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World Journal of Transplantation 2015年第4期5卷 222-230页

作者： Luis D’Marco Antonio Bellasi Sandro Mazzaferro Paolo Raggi Unidad Avanzada de Investigación y Diagnostico Ecográfico y Renal Clínica Puerto Ordaz U.O.C.di nefrologia DialisiOspedale Sant’ AnnaAzienda Ospedaliera Sant’ Anna Department of Health Sciences University of Milan Department of Cardiovascular RespiratoryNephrologicalGeriatricand Anesthesiological Sciences"Sapienza" University Mazankowski Alberta Heart Institute Division of CardiologyDepartment of MedicineSchool of MedicineUniversity of Alberta

The development of end stage renal failure can be seen as a catastrophic health event and patients with this condition are considered at the highest risk of cardiovascular disease among any other patient groups and risk categories. Although kidney transplantation was hailed as an optimal solution to such devastating disease, many issues related to immune-suppressive drugs soon emerged and it became evident that cardiovascular disease would remain a vexing problem. Progression of chronic kidney disease is accompanied by profound alterations of mineral and bone metabolism that are believed to have an impact on the cardiovascular health of patients with advanced degrees of renal failure. Cardiovascular risk factors remain highly prevalent after kidney transplantation, some immune-suppression drugs worsen the risk profile of graft recipients and the alterations of mineral and bone metabolism seen in end stage renal failure are not completely resolved. Whether this complex situation promotes progression of vascular calcification, a hall-mark of advanced chronic kidney disease, and whether vascular calcifications contribute to the poor cardiovascular outcome of post-transplant patients is reviewed in this article.

关键词： morbidity Chronic kidney disease-mineral bone disorder cardiovascular disease chronic kidney disease Mortality Bone fractures

CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

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Open Journal of Genetics 2018年第4期8卷 91-100页

作者： Filipa Ferreira Ines Leal David Sousa Teresa Costa Conceicao Mota Ana Marta Gomes Daniela Lopes Maria do Carmo Macario Isabel Tavares Helena Pinto Joao Paulo Oliveira Rita Magrico Celia Carmona Sonia Ramos Raquel Neiva Ana Marcao Laura Vilarinho Newborn Screening Metabolism and Genetics UnitHuman Genetics DepartmentNational Institute of Health Dr Ricardo JorgePortoPortugal Centro Hospitalar Lisboa Norte Hospital de Santa MariaLisboaPortugal Centro Hospitalar Universitario do Porto PortoPortugal Centro Hospitalar Vila Nova de Gaia EspinhoPortugal Centro Hospitalar Universitario de Coimbra CHUCCoimbraPortugal Servico de Genetica Medica Centro Hospitalar de Sao JoaoPortoPortugal Unidade de Genetica Faculdade de Medicina da Universidade do PortoPortoPortugal I3S—Instituto de Investigacao e Inovacao em Saude PortoPortugal Servico de nefrologia do Hospital Garcia de Orta AlmadaPortugal Research and Development Unit Department of Human GeneticsNational Institute of Health Dr Ricardo JorgePortoPortugal

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22;45.5%), and other five were compound heterozygous for this variant (15/22;68.2%). The other mutations found were p.Q128X (c.721 C>T;2/22), p.S139F (c.755 C>T;4/22) and c.18-21delGACT (p.T7FfsX7;1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

关键词： Cystinosis CTNS Gene Mutational Spectrum Kidney Failure 57-kb Deletion

儿童期高血压患者的肾素血管紧张素系统:原发性高血压中血管紧张素-(1-7)选择性增加

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世界核心医学期刊文摘（儿科学分册） 2005年第1期1卷 36-36页

作者： Silva A.C.S.E. Diniz J.S.S. Regueira Filho A. Santos R.A.S. 贺莉 Unidade de nefrologia Pediát.Departamento de Pediatria Faculdade Med.-UFMGLab.H.Belo HorizonteMGBrazil

目的:笔者检测了血压正常的孩子和高血压患儿的肾素-血管紧张素系统(RAS)的活性。试验设计:让27 例高血压患儿(12例肾血管性高血压患儿和15例原发性高血压患儿)和32例血压正常的儿童在一个儿科肾脏病学中心接受检查。血浆肾素活性(PRA)... 详细信息

目的:笔者检测了血压正常的孩子和高血压患儿的肾素-血管紧张素系统(RAS)的活性。试验设计:让27 例高血压患儿(12例肾血管性高血压患儿和15例原发性高血压患儿)和32例血压正常的儿童在一个儿科肾脏病学中心接受检查。血浆肾素活性(PRA)和血管紧张素的肽类血液样本在血压正常的孩子测量1次,高血压患儿治疗前后各测量1次。血浆的萃取是使用联合萃取滤过器(国际通用化学分析法,港口城市,加里福利亚), 肽类浓缩则是用放射免疫测定(RIA)来测定的。结果: PRA,血管紧张素Ⅰ(Ang Ⅰ),血管紧张素Ⅱ(AngⅡ)和血管紧张素-1-7[Ang-(1-7)

关键词：原发性高血压血管紧张素肾血管性高血压血浆肾素活性化学分析法放射免疫测定血液样本肾脏病学滤过器加里