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[PMID]:28674042
[Au] Autor:Bongers EMHF; Shelton LM; Milatz S; Verkaart S; Bech AP; Schoots J; Cornelissen EAM; Bleich M; Hoenderop JGJ; Wetzels JFM; Lugtenberg D; Nijenhuis T
[Ad] Endereço:Departments of Human Genetics.
[Ti] Título:A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with Mutations.
[So] Source:J Am Soc Nephrol;28(10):3118-3128, 2017 Oct.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mice lacking distal tubular expression of , the gene encoding the tight junction protein Claudin-10, show enhanced paracellular magnesium and calcium permeability and reduced sodium permeability in the thick ascending limb (TAL), leading to a urine concentrating defect. However, the function of renal Claudin-10 in humans remains undetermined. We identified and characterized mutations in two patients with a hypokalemic-alkalotic salt-losing nephropathy. The first patient was diagnosed with Bartter syndrome (BS) >30 years ago. At re-evaluation, we observed hypocalciuria and hypercalcemia, suggesting Gitelman syndrome (GS). However, serum magnesium was in the upper normal to hypermagnesemic range, thiazide responsiveness was not blunted, and genetic analyses did not show mutations in genes associated with GS or BS. Whole-exome sequencing revealed compound heterozygous sequence variants [c.446C>G (p.Pro149Arg) and c.465-1G>A (p.Glu157_Tyr192del)]. The patient had reduced urinary concentrating ability, with a preserved aquaporin-2 response to desmopressin and an intact response to furosemide. These findings were not in line with any other known salt-losing nephropathy. Subsequently, we identified a second unrelated patient showing a similar phenotype, in whom we detected compound heterozygous sequence variants [c.446C>G (p.(Pro149Arg) and c.217G>A (p.Asp73Asn)]. Cell surface biotinylation and immunofluorescence experiments in cells expressing the encoded mutants showed that only one mutation caused significant differences in Claudin-10 membrane localization and tight junction strand formation, indicating that these alterations do not fully explain the phenotype. These data suggest that pathogenic mutations affect TAL paracellular ion transport and cause a novel tight junction disease characterized by a non-BS, non-GS autosomal recessive hypokalemic-alkalotic salt-losing phenotype.
[Mh] Termos MeSH primário: Alcalose/genética
Claudinas/genética
Hipopotassemia/genética
Erros Inatos do Transporte Tubular Renal/genética
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Masculino
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Claudins); 0 (claudin 10)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170705
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016080881


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[PMID]:28280316
[Au] Autor:Toprak O; Sari Y; Koç A; Sari E; Kirik A
[Ad] Endereço:Division of Nephrology.
[Ti] Título:The impact of hypomagnesemia on erectile dysfunction in elderly, non-diabetic, stage 3 and 4 chronic kidney disease patients: a prospective cross-sectional study.
[So] Source:Clin Interv Aging;12:437-444, 2017.
[Is] ISSN:1178-1998
[Cp] País de publicação:New Zealand
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Erectile dysfunction (ED) is common in older men with chronic kidney disease. Magnesium is essential for metabolism of nitric oxide which helps in penile erection. There is little information available about the influence of serum magnesium on ED. The aim of the study was to assess the influence of hypomagnesemia on ED in elderly chronic kidney disease patients. SUBJECTS AND METHODS: A total of 372 patients aged 65-85 years, with an estimated glomerular filtration rate of 60-15 mL/min/1.73 m , were divided into two groups according to serum magnesium levels: hypomagnesemia, n=180; and normomagnesemia, n=192. ED was assessed through the International Index of Erectile Function-5. Hypomagnesemia is defined as serum magnesium <1.8 mg/dL. RESULTS: The prevalence of ED was higher among hypomagnesemic subjects compared to that among normomagnesemics (93.3% vs 70.8%, <0.001). Severe ED (62.8% vs 43.8%, =0.037), mild-to-moderate ED (12.2% vs 5.2%, =0.016), abdominal obesity (37.2% vs 22.9%, =0.003), metabolic syndrome (38.4% vs 19.2%, =0.026), proteinuria (0.83±0.68 vs 0.69±0.48 mg/dL, =0.023), and C-reactive protein (6.1±4.9 vs 4.1±3.6 mg/L, <0.001) were high; high-density lipoprotein cholesterol (48.8±14.0 vs 52.6±13.5 mg/dL, =0.009), and albumin (4.02±0.53 vs 4.18±0.38 g/dL, =0.001) were low in the hypomagnesemia group. Serum magnesium ≤1.85 mg/dL was the best cutoff point for prediction of ED. Hypomagnesemia (relative risk [RR] 2.27), age ≥70 (RR 1.74), proteinuria (RR 1.80), smoking (RR 21.12), C-reactive protein (RR 1.34), abdominal obesity (RR 3.92), and hypertension (RR 2.14) were predictors of ED. CONCLUSION: Our data support that ED is related to hypomagnesemia in elderly patients with moderately to severely reduced kidney function.
[Mh] Termos MeSH primário: Disfunção Erétil/epidemiologia
Hipercalciúria/epidemiologia
Nefrocalcinose/epidemiologia
Insuficiência Renal Crônica/epidemiologia
Erros Inatos do Transporte Tubular Renal/epidemiologia
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Proteína C-Reativa/análise
Estudos Transversais
Taxa de Filtração Glomerular
Seres Humanos
Lipídeos/sangue
Masculino
Obesidade Abdominal/epidemiologia
Estudos Prospectivos
Índices de Gravidade do Trauma
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Lipids); 9007-41-4 (C-Reactive Protein)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170512
[Lr] Data última revisão:
170512
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170311
[St] Status:MEDLINE
[do] DOI:10.2147/CIA.S129377


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[PMID]:28124669
[Au] Autor:Vermeulen EA; Vervloet MG; Lubach CH; Nurmohamed SA; Penne EL
[Ad] Endereço:Department of Nephrology, VU University Medical Center Amsterdam, Amsterdam, the Netherlands.
[Ti] Título:Feasibility of long-term continuous subcutaneous magnesium supplementation in a patient with irreversible magnesium wasting due to cisplatin.
[So] Source:Neth J Med;75(1):35-38, 2017 Jan.
[Is] ISSN:1872-9061
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:A 39-year-old woman presented with severe, uncontrolled and irreversible hypomagnesaemia, following cisplatin treatment in her childhood. Because high-dose oral magnesium supplementation therapy was insufficient and not tolerated, continuous subcutaneous magnesium supplementation was successfully instituted and continued in the outpatient setting. This case demonstrates that continuous subcutaneous magnesium supplementation is effective in maintaining magnesium levels within the normal range, is well tolerated and may provide a long-term solution for chronic hypomagnesaemia due to intractable renal losses.
[Mh] Termos MeSH primário: Cisplatino/efeitos adversos
Suplementos Nutricionais
Magnésio/administração & dosagem
Erros Inatos do Transporte Tubular Renal/terapia
[Mh] Termos MeSH secundário: Adulto
Estudos de Viabilidade
Feminino
Seres Humanos
Infusões Subcutâneas
Erros Inatos do Transporte Tubular Renal/induzido quimicamente
Fatores de Tempo
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
I38ZP9992A (Magnesium); Q20Q21Q62J (Cisplatin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170127
[St] Status:MEDLINE


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[PMID]:28049899
[Au] Autor:Yamamoto Y; Watanabe K; Matsushita H; Tsukiyama I; Matsuura K; Wakatsuki A
[Ad] Endereço:Departments of Pharmacy, Aichi Medical University Hospital.
[Ti] Título:The Incidence of Cisplatin-induced Hypomagnesemia in Cervical Cancer Patients Receiving Cisplatin Alone.
[So] Source:Yakugaku Zasshi;137(1):79-82, 2017.
[Is] ISSN:1347-5231
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Hypomagnesemia is one side effect in patients receiving cisplatin. However, there are few reports of cisplatin-induced hypomagnesemia in Japan. We retrospectively investigated the incidence of hypomagnesemia and nephrotoxicity in patients undergoing radiation therapy who were treated with cisplatin alone (dosage: 40 mg/m , administration interval: 1 week) for cervical cancer. Thirty-two patients undergoing radiation therapy who received cisplatin alone for cervical cancer between January 2012 and May 2016 at Aichi Medical University Hospital were included. We measured patients' serum magnesium and creatinine levels on the day before cisplatin was administered. We utilized the RIFLE criteria (categorized into "risk", "injury", "failure", "loss", and "end-stage kidney disease") to define levels of cisplatin-induced nephrotoxicity, and classified cisplatin-induced nephrotoxicity into "risk" or "injury". Eighteen patients (56.3%) had cisplatin-induced hypomagnesemia, the majority of which occurred after the 4th treatment cycle. The number of patients with moderate renal dysfunction classified as "risk" in the hypomagnesemia group was not significantly higher than in the non-hypomagnesemia group (hypomagnesemia group=27.8%, non-hypomagnesemia group=7.1%; p=0.20). This survey sheds light on the incidence rates of cisplatin-induced hypomagnesemia in patients receiving cisplatin alone. We recommend monitoring the serum magnesium levels during cisplatin administration to prevent hypomagnesemia.
[Mh] Termos MeSH primário: Antineoplásicos/efeitos adversos
Cisplatino/efeitos adversos
Hipercalciúria/induzido quimicamente
Hipercalciúria/epidemiologia
Nefrocalcinose/induzido quimicamente
Nefrocalcinose/epidemiologia
Erros Inatos do Transporte Tubular Renal/induzido quimicamente
Erros Inatos do Transporte Tubular Renal/epidemiologia
Neoplasias do Colo do Útero/tratamento farmacológico
[Mh] Termos MeSH secundário: Antineoplásicos/toxicidade
Cisplatino/toxicidade
Terapia Combinada
Feminino
Seres Humanos
Hipercalciúria/prevenção & controle
Incidência
Monitorização Fisiológica
Nefrocalcinose/prevenção & controle
Erros Inatos do Transporte Tubular Renal/prevenção & controle
Estudos Retrospectivos
Neoplasias do Colo do Útero/radioterapia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); Q20Q21Q62J (Cisplatin)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170105
[St] Status:MEDLINE
[do] DOI:10.1248/yakushi.16-00185


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[PMID]:28033128
[Au] Autor:Funato Y; Yamazaki D; Miki H
[Ad] Endereço:Department of Cellular Regulation, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.
[Ti] Título:Renal function of cyclin M2 Mg2+ transporter maintains blood pressure.
[So] Source:J Hypertens;35(3):585-592, 2017 Mar.
[Is] ISSN:1473-5598
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Epidemiological studies have shown that magnesium intake/excretion is inversely correlated with blood pressure (BP), and artificial supplementation of magnesium was able to prevent hypertension. However, there has been no molecular genetic study showing the importance of magnesium homeostasis in BP regulation. METHODS: We analyzed magnesium content and BP of mice lacking genes encoding cyclin M (CNNM) Mg transporter family proteins. RESULTS: Systemic heterozygotes and the kidney-specific homozygotes for Cnnm2-deficient alleles are both viable and show hypomagnesemia, indicating the important function of CNNM2 in maintaining magnesium homeostasis in the kidney. Endogenous CNNM2 localizes at the basolateral membrane of kidney distal convoluted tubule cells, which play important roles not only in magnesium reabsorption but also in BP control. The BP of these viable strains is significantly reduced; the SBP values by telemetric measurements are 121.7 ±â€Š2.8 mmHg in wild-type, and 110.2 ±â€Š2.7 and 109.7 ±â€Š3.6 mmHg in systemic heterozygotes and kidney-specific homozygotes, respectively. CONCLUSION: Analyses of mice lacking CNNM Mg transporters clearly demonstrated abnormalities in BP values, confirming the importance of magnesium homeostasis in maintaining BP.
[Mh] Termos MeSH primário: Pressão Sanguínea/genética
Proteínas de Transporte de Cátions/genética
Proteínas de Transporte de Cátions/metabolismo
Membrana Basal Glomerular/metabolismo
Túbulos Renais Distais/metabolismo
Magnésio/metabolismo
[Mh] Termos MeSH secundário: Animais
Feminino
Heterozigoto
Homeostase
Homozigoto
Hipercalciúria/genética
Masculino
Camundongos
Nefrocalcinose/genética
Erros Inatos do Transporte Tubular Renal/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cation Transport Proteins); 0 (Cnnm2 protein, mouse); I38ZP9992A (Magnesium)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170815
[Lr] Data última revisão:
170815
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161230
[St] Status:MEDLINE
[do] DOI:10.1097/HJH.0000000000001211


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[PMID]:28134397
[Au] Autor:Fatuzzo P; Zanoli L; Scollo V; Portale G; Gaudio A; Pani A; Granata A
[Ti] Título:[Review: UPDATE on magnesium metabolism].
[Ti] Título:Review: UPDATE sul metabolismo del magnesio..
[So] Source:G Ital Nefrol;33(6), 2016 Nov-Dec.
[Is] ISSN:1724-5990
[Cp] País de publicação:Italy
[La] Idioma:ita
[Ab] Resumo:Magnesium is the second intracellular cation and the fourth most abundant mineral in the body. Low levels of magnesium have been associated with insulin resistance and type-2 diabetes mellitus, asthma, osteoporosis and chronic kidney disease (CKD). The use of proton pump inhibitors (PPIs) represents the most common cause of hypomagnesemia. The risk of hypomagnesemia, and consequently worsening of the renal function, is increased when diuretics are added to therapy in subjects treated with PPIs. Interestingly, diuretics and PPIs are two of the most used drugs in subjects with CKD. In this review, we described the mechanisms at the basis of the hypomagnesemia and the effect of this electrolyte disturbance in subjects with CKD.
[Mh] Termos MeSH primário: Magnésio/metabolismo
[Mh] Termos MeSH secundário: Osso e Ossos/metabolismo
Encéfalo/fisiologia
Coração/fisiologia
Seres Humanos
Hipercalciúria/induzido quimicamente
Magnésio/fisiologia
Nefrocalcinose/induzido quimicamente
Inibidores da Bomba de Prótons/farmacologia
Erros Inatos do Transporte Tubular Renal/induzido quimicamente
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Proton Pump Inhibitors); I38ZP9992A (Magnesium)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170131
[St] Status:MEDLINE


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[PMID]:27906637
[Au] Autor:Stiburkova B; Gabrikova D; Cepek P; Simek P; Kristian P; Cordoba-Lanus E; Claverie-Martin F
[Ad] Endereço:a Institute of Rheumatology , Prague , Czech Republic.
[Ti] Título:Prevalence of URAT1 allelic variants in the Roma population.
[So] Source:Nucleosides Nucleotides Nucleic Acids;35(10-12):529-535, 2016 Dec.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Roma represents a transnational ethnic group, with a current European population of 8-10 million. The evolutionary process that had the greatest impact on the gene pool of the Roma population is called the founder effect. Renal hypouricemia (RHUC) is a rare heterogenous inherited disorder characterized by impaired renal urate reabsorption. The affected individuals are predisposed to recurrent episodes of exercise-induced nonmyoglobinuric acute kidney injury and nephrolithiasis. To date, more than 150 patients with a loss-of-function mutation for the SLC22A12 (URAT1) gene have been found, most of whom are Asians. However, RHUC 1 patients have been described in a variety of ethnic groups (e.g., Arab Israelis, Iraqi Jews, Caucasians, and Roma) and in geographically noncontiguous countries. This study confirms our previous findings regarding the high frequency of SLC22A12 variants observed. Frequencies of the c.1245_1253del and c.1400C>T variants were found to be 1.92% and 5.56%, respectively, in a subgroup of the Roma population from five regions in three countries: Slovakia, Czech Republic, and Spain. Our findings suggested that the common dysfunction allelic variants of URAT1 exist in the general Roma population and thus renal hypouricemia should be kept in differential diagnostic algorithm on Roma patients with defect in renal tubular urate transport. This leads to confirm that the genetic drift in the Roma have increased the prevalence of hereditary disorders caused by very rare variants in major population.
[Mh] Termos MeSH primário: Transportadores de Ânions Orgânicos/genética
Proteínas de Transporte de Cátions Orgânicos/genética
Erros Inatos do Transporte Tubular Renal/genética
Roma (Grupo Étnico)/genética
Cálculos Urinários/genética
[Mh] Termos MeSH secundário: Evolução Molecular
Feminino
Efeito Fundador
Frequência do Gene
Estudos de Associação Genética
Heterozigoto
Seres Humanos
Masculino
Prevalência
Erros Inatos do Transporte Tubular Renal/epidemiologia
Deleção de Sequência
Cálculos Urinários/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Organic Anion Transporters); 0 (Organic Cation Transport Proteins); 0 (SLC22A12 protein, human)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE


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[PMID]:27906636
[Au] Autor:Hosoyamada M; Tsurumi Y; Hirano H; Tomioka NH; Sekine Y; Morisaki T; Uchida S
[Ad] Endereço:a Department of Human Physiology & Pathology , Faculty of Pharma-Sciences, Teikyo University , Tokyo , Japan.
[Ti] Título:Urat1-Uox double knockout mice are experimental animal models of renal hypouricemia and exercise-induced acute kidney injury.
[So] Source:Nucleosides Nucleotides Nucleic Acids;35(10-12):543-549, 2016 Dec.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Renal hypouricemia (RHUC) is a hereditary disease characterized by a low level of plasma urate but with normal urinary urate excretion. RHUC type 1 is caused by mutations of the urate transporter URAT1 gene (SLC22A12). However, the plasma urate levels of URAT1 knockout mice are no different from those of wild-type mice. In the present study, a double knockout mouse, in which the URAT1 and uricase (Uox) genes were deleted (Urat1-Uox-DKO), were used as an experimental animal model of RHUC type 1 to investigate RHUC and excise-induced acute kidney injury (EIAKI). Mice were given a variable content of allopurinol for one week followed by HPLC measurement of urate and creatinine concentrations in spot urine and blood from the tail. The urinary excretion of urate in Urat1-Uox-DKO mice was approximately 25 times higher than those of humans. With allopurinol, the plasma urate levels of Urat1-Uox-DKO mice were lower than those of Uox-KO mice. There were no differences in the urinary urate excretions between Urat1-Uox-DKO and Uox-KO mice administered with 9 mg allopurinol /100 g feed. In the absence of allopurinol, plasma creatinine levels of some Urat1-Uox-DKO mice were higher than those of Uox-KO mice. Consequently, hypouricemia and normouricosuria may indicate that the Urat1-Uox-DKO mouse administered with allopurinol may represent a suitable animal model of RHUC type 1. Urat1-Uox-DKO mice without allopurinol exhibited acute kidney injury, thus providing additional benefit as a potential animal model for EIAKI. Finally, our data indicate that allopurinol appears to provide prophylactic effects for EIAKI.
[Mh] Termos MeSH primário: Lesão Renal Aguda/genética
Transportadores de Ânions Orgânicos/genética
Erros Inatos do Transporte Tubular Renal/genética
Urato Oxidase/genética
Cálculos Urinários/genética
[Mh] Termos MeSH secundário: Lesão Renal Aguda/tratamento farmacológico
Lesão Renal Aguda/metabolismo
Alopurinol/farmacologia
Alopurinol/uso terapêutico
Animais
Creatinina/sangue
Modelos Animais de Doenças
Supressores da Gota/farmacologia
Supressores da Gota/uso terapêutico
Masculino
Camundongos Knockout
Transportadores de Ânions Orgânicos/metabolismo
Condicionamento Físico Animal
Erros Inatos do Transporte Tubular Renal/tratamento farmacológico
Erros Inatos do Transporte Tubular Renal/metabolismo
Urato Oxidase/metabolismo
Ácido Úrico/urina
Cálculos Urinários/tratamento farmacológico
Cálculos Urinários/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Gout Suppressants); 0 (Organic Anion Transporters); 0 (Slc22a12 protein, mouse); 268B43MJ25 (Uric Acid); 63CZ7GJN5I (Allopurinol); AYI8EX34EU (Creatinine); EC 1.7.3.3 (Urate Oxidase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE


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[PMID]:27853022
[Au] Autor:Muñoz de Escalona Rojas JE; Quereda Castañeda A; García García O
[Ad] Endereço:Department of Ophthalmology, Public Health Agency Hospital de Poniente, El Ejido, Almería, Spain.
[Ti] Título:Utility of optical coherence tomography in a case of bilateral congenital macular coloboma.
[So] Source:Indian J Ophthalmol;64(9):683-685, 2016 Sep.
[Is] ISSN:1998-3689
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin-19 (CLDN-19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination. Although genetic testing is necessary to diagnose mutational alterations of the CLDN-19 gene, in our case, it was not necessary to diagnose the FHHNC patient with macular coloboma, since the diagnosis of ocular damage had been already accurately established by the OCT.
[Mh] Termos MeSH primário: Corioide/anormalidades
Coloboma/diagnóstico por imagem
Oftalmopatias Hereditárias/diagnóstico por imagem
Macula Lutea/anormalidades
Erros Inatos do Transporte Tubular Renal/diagnóstico por imagem
Retina/anormalidades
Tomografia de Coerência Óptica
[Mh] Termos MeSH secundário: Adolescente
Cegueira/diagnóstico
Catarata/diagnóstico
Seres Humanos
Macula Lutea/diagnóstico por imagem
Masculino
Acuidade Visual
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161118
[St] Status:MEDLINE
[do] DOI:10.4103/0301-4738.194331


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[PMID]:27780716
[Au] Autor:Fujita K; Ichida K
[Ad] Endereço:Department of Pathophysiology, School of Pharmacy, Tokyo University of Pharmacy and Life Science, 1432-1 Horinouchi, Hachioji 192-0392, Tokyo, Japan.
[Ti] Título:A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia.
[So] Source:Clin Chim Acta;463:119-121, 2016 Dec 01.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:A novel compound heterozygous mutation, including c.935_997delinsTGG, in exons 5/6 of SLC22A12 (URAT1) was identified in a patient with renal hypouricemia. This case expands the molecular mechanisms of renal hypouricemia, and suggests a potential relationship with exercise-induced renal failure.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Mutação
Transportadores de Ânions Orgânicos/genética
Proteínas de Transporte de Cátions Orgânicos/genética
Erros Inatos do Transporte Tubular Renal/genética
Cálculos Urinários/genética
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Japão
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Organic Anion Transporters); 0 (Organic Cation Transport Proteins); 0 (SLC22A12 protein, human)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161106
[St] Status:MEDLINE



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