Base de dados : MEDLINE
Pesquisa : D12.776.157.530.450.074.750.750.750.500 [Categoria DeCS]
Referências encontradas : 60 [refinar]
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[PMID]:27784695
[Au] Autor:Caballero D; Li Y; Ponsetto J; Zhu C; Bergwitz C
[Ad] Endereço:Section of Endocrinology and Metabolism, Yale University School of Medicine, New Haven, Connecticut.
[Ti] Título:Impaired urinary osteopontin excretion in Npt2a-/- mice.
[So] Source:Am J Physiol Renal Physiol;312(1):F77-F83, 2017 Jan 01.
[Is] ISSN:1522-1466
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the renal sodium-dependent phosphate cotransporters NPT2a and NPT2c have been reported in patients with renal stone disease and nephrocalcinosis. Oral phosphate supplementation is currently thought to reduce risk by reversing the hypercalciuria, but the exact mechanism remains unclear and the relative contribution of modifiers of mineralization such as osteopontin (Opn) to the formation of renal mineral deposits in renal phosphate wasting disorders has not been studied. We observed a marked decrease of renal gene expression and urinary excretion of Opn in Npt2a mice, a mouse model of these disorders, at baseline. Following supplementation with phosphate Opn gene expression was restored to wild-type levels in Npt2a mice; however, urine excretion of the protein remained low. To further investigate the role of Opn, we used a double-knockout strategy, which provides evidence that loss of Opn worsens the nephrocalcinosis and nephrolithiasis observed in these mice on a high-phosphate diet. These studies suggest that impaired Opn gene expression and urinary excretion in Npt2a mice may be an additional risk factor for nephrolithiasis, and normalizing urine Opn levels may improve the therapy of phosphaturic disorders.
[Mh] Termos MeSH primário: Raquitismo Hipofosfatêmico Familiar/metabolismo
Hipercalciúria/metabolismo
Rim/metabolismo
Nefrocalcinose/metabolismo
Osteopontina/metabolismo
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/genética
[Mh] Termos MeSH secundário: Animais
Feminino
Fatores de Crescimento de Fibroblastos/genética
Hipofosfatemia/genética
Masculino
Camundongos Knockout
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/metabolismo
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Slc34a1 protein, mouse); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc); 106441-73-0 (Osteopontin); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170906
[Lr] Data última revisão:
170906
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161028
[St] Status:MEDLINE
[do] DOI:10.1152/ajprenal.00367.2016


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[PMID]:27292223
[Au] Autor:Ide N; Olauson H; Sato T; Densmore MJ; Wang H; Hanai JI; Larsson TE; Lanske B
[Ad] Endereço:Division of Bone and Mineral Research, Harvard School of Dental Medicine, Boston, Massachusetts, USA.
[Ti] Título:In vivo evidence for a limited role of proximal tubular Klotho in renal phosphate handling.
[So] Source:Kidney Int;90(2):348-362, 2016 Aug.
[Is] ISSN:1523-1755
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Klotho is a transmembrane protein expressed in the renal tubules where it acts as a permissive coreceptor for fibroblast growth factor 23 (FGF23). FGF23 signaling reduces the abundance of CYP27b1 and phosphate cotransporters NPT2a and NPT2c, leading to a decrease in 1,25(OH)2D3 synthesis and a rise in urinary phosphate excretion, respectively. Systemic or whole-nephron deletion of Klotho in mice results in renal FGF23 resistance characterized by high 1,25(OH)2D3 and phosphate levels and premature aging. Expression of Klotho is highest in the distal tubules, whereas 25OH vitamin D 1α hydroxylation and phosphate reabsorption predominantly occur in the proximal tubules. Currently, the segment-specific roles of Klotho in renal tubules are not fully understood. Here we have generated mice with Klotho specifically ablated from the proximal tubules using 3 different Cre mouse strains. All 3 models displayed impaired urinary phosphate excretion and increased abundance of NPT2a in the brush border membrane. Notably, hyperphosphatemia in knockout mice was mild or nonexistent under basal conditions but occurred upon high phosphate loading, indicating the presence of compensatory mechanisms. Effects on 1,25(OH)2D3 varied between mouse strains but were modest overall. Thus, Klotho expressed in the proximal tubules has a defined but limited role in renal phosphate handling in vivo.
[Mh] Termos MeSH primário: 25-Hidroxivitamina D3 1-alfa-Hidroxilase/metabolismo
Fatores de Crescimento de Fibroblastos/metabolismo
Glucuronidase/metabolismo
Túbulos Renais/fisiologia
Fosfatos/metabolismo
Eliminação Renal
[Mh] Termos MeSH secundário: Senilidade Prematura/metabolismo
Animais
Calcitriol/metabolismo
Feminino
Glucuronidase/genética
Seres Humanos
Hiperfosfatemia/sangue
Hiperfosfatemia/genética
Imuno-Histoquímica
Túbulos Renais/citologia
Camundongos
Camundongos Endogâmicos C57BL
Fosfatos/urina
Cultura Primária de Células
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/metabolismo
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Phosphates); 0 (Slc34a1 protein, mouse); 0 (Slc34a3 protein, mouse); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc); 0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors); EC 1.14.13.13 (25-Hydroxyvitamin D3 1-alpha-Hydroxylase); EC 3.2.1.31 (Glucuronidase); EC 3.2.1.31 (klotho protein); FXC9231JVH (Calcitriol)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160614
[St] Status:MEDLINE


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[PMID]:26813509
[Au] Autor:Sekine T
[Ad] Endereço:Department of Pediatrics, Toho University Ohashi Hospital, Japan.
[Ti] Título:[Renal hypophosphatemia:pathophysiology and treatment].
[So] Source:Clin Calcium;26(2):284-94, 2016 Feb.
[Is] ISSN:0917-5857
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Serum level of phosphate is regulated by the kidney, especially proximal tubule. The transcellular transport of phosphate in the proximal tubule is mediated via Na dependent transporters, i.e., NPT2a and NPT2b at the luminal membrane, and unknown channel at the basolateral side. The transport of phosphate via NPT2a and NPT2b is further regulated by factors, such as PTH, FGF23, and 1,25(OH)(2)D. Several hereditary diseases that cause hypophoshatemia specically are known. In addition, dysfunction of proximal tubule may develop Fanconi syndrome, which also causes hypherphosphaturia. In this section, I describe the renal mechanisms of phosphate handling and the causes of hypophosphatemia along with its treatment.
[Mh] Termos MeSH primário: Hipofosfatemia/etiologia
Hipofosfatemia/metabolismo
Túbulos Renais Proximais/metabolismo
Fosfatos/metabolismo
[Mh] Termos MeSH secundário: Administração Oral
Calcitriol/fisiologia
Canais de Cloreto
Doença de Dent/etiologia
Doença de Dent/genética
Doença de Dent/metabolismo
Síndrome de Fanconi/etiologia
Síndrome de Fanconi/metabolismo
Fatores de Crescimento de Fibroblastos/fisiologia
Seres Humanos
Hipofosfatemia/terapia
Doenças Mitocondriais
Síndrome Oculocerebrorrenal
Hormônio Paratireóideo/fisiologia
Monoéster Fosfórico Hidrolases
Compostos de Fósforo/administração & dosagem
Compostos de Fósforo/uso terapêutico
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/fisiologia
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/fisiologia
Vitamina D/administração & dosagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (CLC-5 chloride channel); 0 (Chloride Channels); 0 (Parathyroid Hormone); 0 (Phosphates); 0 (Phosphorus Compounds); 0 (SLC34A1 protein, human); 0 (SLC34A3 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc); 0 (fibroblast growth factor 23); 1406-16-2 (Vitamin D); 62031-54-3 (Fibroblast Growth Factors); EC 3.1.3.2 (Phosphoric Monoester Hydrolases); EC 3.1.3.36 (OCRL protein, human); FXC9231JVH (Calcitriol)
[Em] Mês de entrada:1604
[Cu] Atualização por classe:161126
[Lr] Data última revisão:
161126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160128
[St] Status:MEDLINE
[do] DOI:CliCa1602284294


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[PMID]:26789268
[Au] Autor:Lal D; Neubauer BA; Toliat MR; Altmüller J; Thiele H; Nürnberg P; Kamrath C; Schänzer A; Sander T; Hahn A; Nothnagel M
[Ad] Endereço:Cologne Center for Genomics, University of Cologne, 50931, Cologne, Germany.
[Ti] Título:Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.
[So] Source:PLoS One;11(1):e0146040, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. Here, we describe the illustrative case of a single consanguineous family where this strategy suffered from the difficulty to distinguish between two etiologically distinct disorders, namely the co-occurrence of hereditary hypophosphatemic rickets (HRR) and congenital myopathies (CM), by their phenotypic manifestation alone. We used parametric linkage analysis, homozygosity mapping and whole exome-sequencing to identify mutations underlying HRR and CM. We also present an approximate approach for assessing the probability of co-occurrence of two unlinked recessive RD in a single family as a function of the degree of consanguinity and the frequency of the disease-causing alleles. Linkage analysis and homozygosity mapping yielded elusive results when assuming a single RD, but whole-exome sequencing helped to identify two mutations in two genes, namely SLC34A3 and SEPN1, that segregated independently in this family and that have previously been linked to two etiologically different diseases. We assess the increase in chance co-occurrence of rare diseases due to consanguinity, i.e. under circumstances that generally favor linkage mapping of recessive disease, and show that this probability can increase by several orders of magnitudes. We conclude that such potential co-occurrence represents an underestimated risk when analyzing rare or undefined diseases in consanguineous families and should be given more consideration in the clinical and genetic evaluation.
[Mh] Termos MeSH primário: Proteínas Musculares/genética
Mutação
Miotonia Congênita
Raquitismo Hipofosfatêmico
Selenoproteínas/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Miotonia Congênita/complicações
Miotonia Congênita/genética
Doenças Raras/genética
Raquitismo Hipofosfatêmico/complicações
Raquitismo Hipofosfatêmico/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Muscle Proteins); 0 (SEPN1 protein, human); 0 (SLC34A3 protein, human); 0 (Selenoproteins); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:160131
[Lr] Data última revisão:
160131
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160121
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0146040


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[PMID]:26588476
[Au] Autor:Portale AA; Zhang MY; David V; Martin A; Jiao Y; Gu W; Perwad F
[Ad] Endereço:Department of Pediatrics, Division of Nephrology, University of California San Francisco, San Francisco, California, United States of America.
[Ti] Título:Characterization of FGF23-Dependent Egr-1 Cistrome in the Mouse Renal Proximal Tubule.
[So] Source:PLoS One;10(11):e0142924, 2015.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fibroblast growth factor 23 (FGF23) is a potent regulator of phosphate (Pi) and vitamin D homeostasis. The transcription factor, early growth response 1 (egr-1), is a biomarker for FGF23-induced activation of the ERK1/2 signaling pathway. We have shown that ERK1/2 signaling blockade suppresses renal egr-1 gene expression and prevents FGF23-induced hypophosphatemia and 1,25-dihydroxyvitamin D (1,25(OH)2D) suppression in mice. To test whether egr-1 itself mediates these renal actions of FGF23, we administered FGF23 to egr-1-/- and wild-type (WT) mice. In WT mice, FGF23 induced hypophosphatemia and suppressed expression of the renal Na/Pi cotransporters, Npt2a and Npt2c. In FGF23-treated egr-1-/- mice, hypophosphatemic response was greatly blunted and Na/Pi cotransporter expression was not suppressed. In contrast, FGF23 induced equivalent suppression of serum 1,25(OH)2D concentrations by suppressing renal cyp27b1 and stimulating cyp24a1 mRNA expression in both groups of mice. Thus, downstream of receptor binding and ERK1/2 signaling, we can distinguish the effector pathway that mediates FGF23-dependent inhibition of Pi transport from the pathway that mediates inhibition of 1,25(OH)2D synthesis in the kidney. Furthermore, we demonstrate that the hypophosphatemic effect of FGF23 is significantly blunted in Hyp/egr-1-/- mice; specifically, serum Pi concentrations and renal Npt2a and Npt2c mRNA expression are significantly higher in Hyp/egr-1-/- mice than in Hyp mice. We then characterized the egr-1 cistrome in the kidney using ChIP-sequencing and demonstrate recruitment of egr-1 to regulatory DNA elements in proximity to several genes involved in Pi transport. Thus, our data demonstrate that the effect of FGF23 on Pi homeostasis is mediated, at least in part, by activation of egr-1.
[Mh] Termos MeSH primário: Proteína 1 de Resposta de Crescimento Precoce/genética
Fatores de Crescimento de Fibroblastos/metabolismo
Túbulos Renais Proximais/metabolismo
Fosfatos/metabolismo
[Mh] Termos MeSH secundário: Animais
Fatores de Crescimento de Fibroblastos/administração & dosagem
Regulação da Expressão Gênica
Hipofosfatemia/genética
Hipofosfatemia/metabolismo
Hipofosfatemia/patologia
Túbulos Renais Proximais/patologia
Sistema de Sinalização das MAP Quinases/genética
Camundongos
Camundongos Transgênicos
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/biossíntese
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/biossíntese
Vitamina D/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Early Growth Response Protein 1); 0 (Egr1 protein, mouse); 0 (Phosphates); 0 (Slc34a1 protein, mouse); 0 (Slc34a3 protein, mouse); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc); 0 (fibroblast growth factor 23); 1406-16-2 (Vitamin D); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:151126
[Lr] Data última revisão:
151126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151121
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0142924


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[PMID]:26399350
[Au] Autor:Shiozaki Y; Segawa H; Ohnishi S; Ohi A; Ito M; Kaneko I; Kido S; Tatsumi S; Miyamoto K
[Ad] Endereço:Department of Molecular Nutrition, University of Tokushima Graduate School.
[Ti] Título:Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells.
[So] Source:J Med Invest;62(3-4):209-18, 2015.
[Is] ISSN:1349-6867
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:NaPi-IIc/SLC34A3 is a sodium-dependent inorganic phosphate (Pi) transporter in the renal proximal tubules and its mutations cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). In the present study, we created a specific antibody for opossum SLC34A3, NaPi-IIc (oNaPi-IIc), and analyzed its localization and regulation in opossum kidney cells (a tissue culture model of proximal tubular cells). Immunoreactive oNaPi-IIc protein levels increased during the proliferative phase and decreased during differentiation. Moreover, stimulating cell growth upregulated oNaPi-IIc protein levels, whereas suppressing cell proliferation downregulated oNaPi-IIc protein levels. Immunocytochemistry revealed that endogenous and exogenous oNaPi-IIc proteins localized at the protrusion of the plasma membrane, which is a phosphatidylinositol 4,5-bisphosphate (PIP2) rich-membrane, and at the intracellular vacuolar membrane. Exogenous NaPi-IIc also induced cellular vacuoles and localized in the plasma membrane. The ability to form vacuoles is specific to electroneutral NaPi-IIc, and not electrogenic NaPi-IIa or NaPi-IIb. In addition, mutations of NaPi-IIc (S138F and R468W) in HHRH did not cause cellular PIP2-rich vacuoles. In conclusion, our data anticipate that NaPi-IIc may regulate PIP2 production at the plasma membrane and cellular vesicle formation.
[Mh] Termos MeSH primário: Rim/metabolismo
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/fisiologia
Vacúolos/fisiologia
[Mh] Termos MeSH secundário: Animais
Ciclo Celular
Células Cultivadas
Raquitismo Hipofosfatêmico Familiar/genética
Rim/ultraestrutura
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Mutação
Gambás
Fosfatidilinositol 4,5-Difosfato/metabolismo
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Phosphatidylinositol 4,5-Diphosphate); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170106
[Lr] Data última revisão:
170106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150925
[St] Status:MEDLINE
[do] DOI:10.2152/jmi.62.209


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[PMID]:26126333
[Au] Autor:Kaneko I; Segawa H; Tatsumi S; Miyamoto K
[Ti] Título:[Genetic diseases of renal phosphate handling].
[So] Source:Nihon Jinzo Gakkai Shi;57(4):758-65, 2015.
[Is] ISSN:0385-2385
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Mh] Termos MeSH primário: Distúrbios do Metabolismo do Ferro/genética
Distúrbios do Metabolismo do Ferro/metabolismo
Fosfatos/metabolismo
[Mh] Termos MeSH secundário: Transporte Biológico
Cromossomos Humanos
Seres Humanos
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Phosphates); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:150701
[Lr] Data última revisão:
150701
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150702
[St] Status:MEDLINE


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[PMID]:25504362
[Au] Autor:Arcidiacono T; Mingione A; Macrina L; Pivari F; Soldati L; Vezzoli G
[Ad] Endereço:Nephrology and Dialysis Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
[Ti] Título:Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies.
[So] Source:Am J Nephrol;40(6):499-506, 2014.
[Is] ISSN:1421-9670
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Calcium nephrolithiasis is a multifactorial disease with a polygenic milieu. Association studies identified genetic polymorphisms potentially implicated in the pathogenesis of calcium nephrolithiasis. The present article reviews the mechanisms of calcium stone formation and the potential contribution of gene polymorphisms to lithogenic mechanisms. SUMMARY: Endoscopy observations suggested that precipitation of calcium-oxalate on the Randall's plaque at the papilla surface may cause idiopathic calcium-oxalate stones. The Randall's plaque is a hydroxyapatite deposit in the interstitium of the kidney medulla, which resembles a soft tissue calcification. Conversely, calcium-phosphate stones may develop from crystalline deposits located at the tip of the Bellini duct. Polymorphisms of eleven genes have been associated with stones in genome-wide association studies and replicated candidate-gene association studies: VDR, SLC34A1, SLC34A4, CLDN14, and CaSR genes coding for proteins regulating tubular phosphate and calcium reabsorption; CaSR, MGP, OPN, PLAU, and UMOD genes coding for proteins preventing calcium salt precipitation; AQP1 gene coding for a water channel in the proximal tubule. The renal activity of the last gene, DGKH, is unknown. Polymorphisms in these genes may predispose to calcium-oxalate and -phosphate stones by increasing the risk of calcium-phosphate precipitation in the tubular fluid. Key Messages: Genetic findings suggest that tubular fluid supersaturation with respect to calcium and phosphate predisposes to calcium-oxalate stones by triggering cellular mechanisms that lead to the Randall's plaque formation.
[Mh] Termos MeSH primário: Oxalato de Cálcio/metabolismo
Fosfatos de Cálcio/metabolismo
Nefrolitíase/genética
Nefrolitíase/metabolismo
[Mh] Termos MeSH secundário: Aquaporina 1/genética
Proteínas de Ligação ao Cálcio/genética
Claudinas/genética
Diacilglicerol Quinase/genética
Proteínas da Matriz Extracelular/genética
Estudo de Associação Genômica Ampla
Seres Humanos
Osteopontina/genética
Polimorfismo de Nucleotídeo Único
Receptores de Calcitriol/genética
Receptores de Detecção de Cálcio/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIa/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética
Ativador de Plasminogênio Tipo Uroquinase/genética
Uromodulina/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (AQP1 protein, human); 0 (CASR protein, human); 0 (Calcium Phosphates); 0 (Calcium-Binding Proteins); 0 (Claudins); 0 (Extracellular Matrix Proteins); 0 (Receptors, Calcitriol); 0 (Receptors, Calcium-Sensing); 0 (SLC34A1 protein, human); 0 (SLC34A3 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIa); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc); 0 (UMOD protein, human); 0 (Uromodulin); 0 (VDR protein, human); 0 (claudin 14); 0 (matrix Gla protein); 106441-73-0 (Osteopontin); 146410-94-8 (Aquaporin 1); 2612HC57YE (Calcium Oxalate); 97Z1WI3NDX (calcium phosphate); EC 2.7.1.107 (Diacylglycerol Kinase); EC 3.4.21.73 (Urokinase-Type Plasminogen Activator)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:150209
[Lr] Data última revisão:
150209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141216
[St] Status:MEDLINE
[do] DOI:10.1159/000369833


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[PMID]:24924704
[Au] Autor:Abe Y; Nagasaki K; Watanabe T; Abe T; Fukami M
[Ad] Endereço:Department of Pediatrics, Niigata City General Hospital, Niigata, Japan.
[Ti] Título:Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.
[So] Source:Horm Res Paediatr;82(1):65-71, 2014.
[Is] ISSN:1663-2826
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mutations in SLC34A3 have been shown to cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Patients with compound heterozygous or homozygous mutations develop skeletal lesions in addition to hypercalciuria, hypophosphatemia and/or elevated 1,25-dihydroxy vitamin D [1,25-(OH)2D] levels. Here, we report a case of hypercalciuria without skeletal lesions in a patient with compound heterozygous mutations of SLC34A3. CASE PRESENTATION: A 3-year-old girl presented with microscopic hematuria. Laboratory data revealed elevated 1,25-(OH)2D levels and serum calcium, reduced serum inorganic phosphorus and hypercalciuria. In addition, the ratio of maximal rate of renal tubular reabsorption of phosphate to glomerular filtration rate was reduced. Abdominal ultrasound revealed bilateral nephrocalcinosis. These data were consistent with HHRH, but the patient had no clinical features of rickets or any family history of skeletal disease. Genetic analysis revealed compound heterozygous mutations of c.175+1 G>A and c.1234 C>T in SLC34A3. CONCLUSIONS: This is the report of a patient with compound heterozygous mutations of SLC34A3 and normal skeletal features. Biallelic mutations in SLC34A3 can thus be associated with hypercalciuria not accompanied by rickets. Orally administered inorganic phosphate is predicted to improve symptoms in these patients, hence screening for SLC34A3 mutations should be considered in patients with hypercalciuria of unknown etiology.
[Mh] Termos MeSH primário: Hipercalciúria/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética
[Mh] Termos MeSH secundário: Administração Oral
Pré-Escolar
Raquitismo Hipofosfatêmico Familiar/diagnóstico por imagem
Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico
Raquitismo Hipofosfatêmico Familiar/genética
Feminino
Heterozigoto
Seres Humanos
Hipercalciúria/diagnóstico por imagem
Hipercalciúria/tratamento farmacológico
Mutação
Nefrocalcinose/diagnóstico por imagem
Nefrocalcinose/tratamento farmacológico
Nefrocalcinose/genética
Fosfatos/administração & dosagem
Ultrassonografia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Phosphates); 0 (SLC34A3 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc)
[Em] Mês de entrada:1503
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140614
[St] Status:MEDLINE
[do] DOI:10.1159/000360291


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[PMID]:24700880
[Au] Autor:Dasgupta D; Wee MJ; Reyes M; Li Y; Simm PJ; Sharma A; Schlingmann KP; Janner M; Biggin A; Lazier J; Gessner M; Chrysis D; Tuchman S; Baluarte HJ; Levine MA; Tiosano D; Insogna K; Hanley DA; Carpenter TO; Ichikawa S; Hoppe B; Konrad M; Sävendahl L; Munns CF; Lee H; Jüppner H; Bergwitz C
[Ad] Endereço:Endocrine Unit, and.
[Ti] Título:Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
[So] Source:J Am Soc Nephrol;25(10):2366-75, 2014 Oct.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na(+))-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a disorder characterized by renal phosphate wasting resulting in hypophosphatemia, correspondingly elevated 1,25(OH)2 vitamin D levels, hypercalciuria, and rickets/osteomalacia. Similar, albeit less severe, biochemical changes are observed in heterozygous (het) carriers and indistinguishable from those changes encountered in idiopathic hypercalciuria (IH). Here, we report a review of clinical and laboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindreds and two cases with IH, in which known and novel SLC34A3 mutations (c.1357delTTC [p.F453del]; c.G1369A [p.G457S]; c.367delC) were identified. Individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis, namely 46% compared with 6% observed in healthy family members carrying only the wild-type SLC34A3 allele (P=0.005) or 5.64% in the general population (P<0.001). Renal calcifications were also more frequent in het carriers (16%; P=0.003 compared with the general population) and were more likely to occur in comp/hom and het individuals with decreased serum phosphate (odds ratio [OR], 0.75, 95% confidence interval [95% CI], 0.59 to 0.96; P=0.02), decreased tubular reabsorption of phosphate (OR, 0.41; 95% CI, 0.23 to 0.72; P=0.002), and increased serum 1,25(OH)2 vitamin D (OR, 1.22; 95% CI, 1.05 to 1.41; P=0.008). Additional studies are needed to determine whether these biochemical parameters are independent of genotype and can guide therapy to prevent nephrocalcinosis, nephrolithiasis, and potentially, CKD.
[Mh] Termos MeSH primário: Cálculos Renais/genética
Nefrocalcinose/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética
[Mh] Termos MeSH secundário: Adulto
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Masculino
Mutação de Sentido Incorreto
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; META-ANALYSIS; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SLC34A3 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type IIc)
[Em] Mês de entrada:1412
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140405
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2013101085



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