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[PMID]:28315917
[Au] Autor:Xu C; Ma C; Bai Y
[Ad] Endereço:Nuclear Medicine, Shaanxi Provincial People's Hospital, Affiliated to School of Medicine Xian Jiaotong University, Xian, Shaanxi, China. baiyongli200672@163.com.
[Ti] Título:A pediatric hypophosphatemic rickets on MRI, Tc-MDP bone scan and F-FDG PET/CT.
[So] Source:Hell J Nucl Med;20(1):93-96, 2017 Jan-Apr.
[Is] ISSN:1790-5427
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:We present a case of a 13 years old boy who was hospitalized with a 10 months history of progressive pain and weakness in his lower extremities. The laboratory tests revealed slightly decreased phosphate and 25-hydroxyvitamin D3, high alkaline phosphatase, normal calcium and parathyroid hormone (PTH). Magnetic resonance imaging (MRI) showed multiple patchy lesions indicating bone destruction in the metaphyses and epiphyses of the left knee. Fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography ( F-FDG PET/CT) revealed a generalized decrease of bone density in axial bones with slightly increased F-FDG metabolism. Whole body technetium-99m methylene diphosphonate ( Tc-MDP) scintigraphy revealed multiple areas of increased uptake at costochondral junctions of the ribs bilaterally suggesting a rachitic rosary and at the metaphyses of the bones of the limbs. Based on these findings we suggested the diagnosis of hypophosphatemic rickets (HPR). Phosphate and vitamin D substitution resulted in clinical improvement of the symptoms after 3 months.
[Mh] Termos MeSH primário: Fluordesoxiglucose F18
Imagem por Ressonância Magnética/métodos
Tomografia Computadorizada com Tomografia por Emissão de Pósitrons/métodos
Raquitismo Hipofosfatêmico/diagnóstico por imagem
Medronato de Tecnécio Tc 99m
[Mh] Termos MeSH secundário: Adolescente
Diagnóstico Diferencial
Seres Humanos
Masculino
Compostos Radiofarmacêuticos
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (Radiopharmaceuticals); 0Z5B2CJX4D (Fluorodeoxyglucose F18); X89XV46R07 (Technetium Tc 99m Medronate)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170320
[St] Status:MEDLINE
[do] DOI:10.1967/s002449910515


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[PMID]:27864003
[Au] Autor:Mano H; Nishikawa M; Yasuda K; Ikushiro S; Saito N; Sawada D; Honzawa S; Takano M; Kittaka A; Sakaki T
[Ad] Endereço:Department of Biotechnology, Faculty of Engineering, Toyama Prefectural University, 5180 Kurokawa, Imizu, Toyama 939-0398, Japan.
[Ti] Título:Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor.
[So] Source:J Steroid Biochem Mol Biol;167:61-66, 2017 Mar.
[Is] ISSN:1879-1220
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hereditary vitamin D-resistant rickets (HVDRR) is caused by mutations in the vitamin D receptor (VDR) gene. Arg274 located in the ligand binding domain (LBD) of VDR is responsible for anchoring 1α,25-dihydroxyvitamin D3 (1α,25(OH) D ) by forming a hydrogen bond with the 1α-hydroxyl group of 1α,25(OH) D The Arg274Leu (R274L) mutation identified in patients with HVDRR causes a 1000-fold decrease in the affinity for 1α,25(OH) D , and dramatically reduces vitamin D- related gene expression. Recently, we successfully constructed fusion proteins consisting of split-luciferase and LBD of the VDR. The chimeric protein LucC-LBD-LucN, which displays the C-terminal domain of luciferase (LucC) at its N-terminus, can detect and discriminate between VDR agonists and antagonists. The LucC-LBD (R274L)-LucN was constructed to screen high-affinity ligands for the mutant VDR (R274L). Of the 33 vitamin D analogs, 5 showed much higher affinities for the mutant VDR (R274L) than 1α,25(OH) D , and 2α-[2-(tetrazol-2-yl)ethyl]-1α,25-(OH) D showed the highest affinity. These compounds might be potential therapeutics for HVDRR caused by the mutant VDR (R274L).
[Mh] Termos MeSH primário: Técnicas Biossensoriais
Receptores de Calcitriol/genética
Raquitismo Hipofosfatêmico/diagnóstico
Vitamina D/metabolismo
[Mh] Termos MeSH secundário: Animais
Células COS
Cercopithecus aethiops
Relação Dose-Resposta a Droga
Células HEK293
Seres Humanos
Ligantes
Luciferases/metabolismo
Luminescência
Mutação
Plasmídeos/metabolismo
Ligação Proteica
Domínios Proteicos
Proteínas Recombinantes de Fusão/metabolismo
Raquitismo Hipofosfatêmico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ligands); 0 (Receptors, Calcitriol); 0 (Recombinant Fusion Proteins); 0 (VDR protein, human); 1406-16-2 (Vitamin D); EC 1.13.12.- (Luciferases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170704
[Lr] Data última revisão:
170704
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161120
[St] Status:MEDLINE


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[PMID]:27799484
[Au] Autor:Ansermet C; Moor MB; Centeno G; Auberson M; Hu DZ; Baron R; Nikolaeva S; Haenzi B; Katanaeva N; Gautschi I; Katanaev V; Rotman S; Koesters R; Schild L; Pradervand S; Bonny O; Firsov D
[Ad] Endereço:Department of Pharmacology and Toxicology and.
[Ti] Título:Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron.
[So] Source:J Am Soc Nephrol;28(4):1073-1078, 2017 Apr.
[Is] ISSN:1533-3450
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Tight control of extracellular and intracellular inorganic phosphate (Pi) levels is critical to most biochemical and physiologic processes. Urinary Pi is freely filtered at the kidney glomerulus and is reabsorbed in the renal tubule by the action of the apical sodium-dependent phosphate transporters, NaPi-IIa/NaPi-IIc/Pit2. However, the molecular identity of the protein(s) participating in the basolateral Pi efflux remains unknown. Evidence has suggested that xenotropic and polytropic retroviral receptor 1 (XPR1) might be involved in this process. Here, we show that conditional inactivation of in the renal tubule in mice resulted in impaired renal Pi reabsorption. Analysis of Pi transport in primary cultures of proximal tubular cells or in freshly isolated renal tubules revealed that this deficiency significantly affected Pi efflux. Further, mice with conditional inactivation of in the renal tubule exhibited generalized proximal tubular dysfunction indicative of Fanconi syndrome, characterized by glycosuria, aminoaciduria, calciuria, and albuminuria. Dramatic alterations in the renal transcriptome, including a significant reduction in NaPi-IIa/NaPi-IIc expression, accompanied these functional changes. Additionally, -deficient mice developed hypophosphatemic rickets secondary to renal dysfunction. These results identify XPR1 as a major regulator of Pi homeostasis and as a potential therapeutic target in bone and kidney disorders.
[Mh] Termos MeSH primário: Síndrome de Fanconi/etiologia
Néfrons
Receptores Acoplados a Proteínas-G/fisiologia
Receptores Virais/fisiologia
Raquitismo Hipofosfatêmico/etiologia
[Mh] Termos MeSH secundário: Animais
Feminino
Masculino
Camundongos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, G-Protein-Coupled); 0 (Receptors, Virus); 0 (xenotropic and polytropic retrovirus receptor)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170524
[Lr] Data última revisão:
170524
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161102
[St] Status:MEDLINE
[do] DOI:10.1681/ASN.2016070726


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[PMID]:27754732
[Au] Autor:Takashi Y; Kinoshita Y; Hori M; Ito N; Taguchi M; Fukumoto S
[Ad] Endereço:a Division of Nephrology and Endocrinology , The University of Tokyo Hospital , Bunkyo-ku , Tokyo , Japan.
[Ti] Título:Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy.
[So] Source:Endocr Res;42(2):132-137, 2017 May.
[Is] ISSN:1532-4206
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Fibroblast growth factor 23 (FGF23) is a hormone regulating phosphate metabolism. Excessive actions of FGF23 cause several types of FGF23-related hypophosphatemic rickets/osteomalacia. Recently, it was reported that FGF23 levels were independently correlated with left ventricular hypertrophy (LVH) in patients with chronic kidney disease (CKD). In addition, FGF23 was also shown to cause cardiac hypertrophy directly acting on cardiomyocytes. However, there is no study indicating the correlation between FGF23 and LVH in adult patients with FGF23-related hypophosphatemic rickets/osteomalacia. Therefore, we examined the existence of LVH in these patients. MATERIALS AND METHODS: We recruited consecutive 24 patients with FGF23-related hypophosphatemic diseases. Their serum intact FGF23 levels and the parameters associated with LVH, including left ventricular mass index (LVMI), relative wall thickness (RWT), Sokolow-Lyon voltage, and Cornell product, were measured. The correlations between FGF23 and these parameters were examined. RESULTS: The participants did not show LVH on the whole. In addition, no significant correlation was observed by these examinations. CONCLUSION: It seems unlikely that FGF23 levels are the apparent determinant of the cardiac mass in patients with FGF23-related hypophosphatemic rickets/osteomalacia.
[Mh] Termos MeSH primário: Fatores de Crescimento de Fibroblastos/sangue
Hipertrofia Ventricular Esquerda/sangue
Osteomalacia/sangue
Raquitismo Hipofosfatêmico/sangue
[Mh] Termos MeSH secundário: Adulto
Idoso
Feminino
Seres Humanos
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161019
[St] Status:MEDLINE
[do] DOI:10.1080/07435800.2016.1242604


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[PMID]:27959908
[Au] Autor:Tian C; Harris BS; Johnson KR
[Ad] Endereço:The Jackson Laboratory, Bar Harbor, Maine, United States of America.
[Ti] Título:Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.
[So] Source:PLoS One;11(12):e0168159, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Otitis media (OM), inflammation of the middle ear, is a common cause of hearing loss in children and in patients with many different syndromic diseases. Studies of the human population and mouse models have revealed that OM is a multifactorial disease with many environmental and genetic contributing factors. Here, we report on otitis media-related hearing loss in asj (ages with stiffened joints) mutant mice, which bear a point mutation in the Enpp1 gene. Auditory-evoked brainstem response (ABR) measurements revealed that around 90% of the mutant mice (Enpp1asj/asj) tested had moderate to severe hearing impairment in at least one ear. The ABR thresholds were variable and generally elevated with age. We found otitis media with effusion (OME) in all of the hearing-impaired Enpp1asj/asj mice by anatomic and histological examinations. The volume and inflammatory cell content of the effusion varied among the asj mutant mice, but all mutants exhibited a thickened middle ear epithelium with fibrous polyps and more mucin-secreting goblet cells than controls. Other abnormalities observed in the Enpp1 mutant mice include over-ossification at the round window ridge, thickened and over-calcified stapedial artery, fusion of malleus and incus, and white patches on the inside of tympanic membrane, some of which are typical symptoms of tympanosclerosis. An excessive yellow discharge was detected in the outer ear canal of older asj mutant mice, with 100% penetrance by 5 months of age, and contributes to the progressive nature of the hearing loss. This is the first report of hearing loss and ear pathology associated with an Enpp1 mutation in mice. The Enpp1asj mutant mouse provides a new animal model for studying tympanosclerotic otitis and otitis media with effusion, and also provides a specific model for the hearing loss recently reported to be associated with human ENPP1 mutations causing generalized arterial calcification of infancy and hypophosphatemic rickets.
[Mh] Termos MeSH primário: Perda Auditiva Condutiva/genética
Miringoesclerose/genética
Otite Média/genética
Diester Fosfórico Hidrolases/genética
Pirofosfatases/genética
[Mh] Termos MeSH secundário: Animais
Orelha Média/patologia
Orelha Média/ultraestrutura
Genótipo
Perda Auditiva Condutiva/patologia
Inflamação
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Mutantes
Camundongos Transgênicos
Microscopia Eletrônica de Varredura
Mutação
Miringoesclerose/patologia
Otite Média/patologia
Raquitismo Hipofosfatêmico/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.4.- (Phosphoric Diester Hydrolases); EC 3.1.4.1 (ectonucleotide pyrophosphatase phosphodiesterase 1); EC 3.6.1.- (Pyrophosphatases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161214
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0168159


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[PMID]:27889732
[Au] Autor:Satapathy AK; Mittal S; Jain V
[Ad] Endereço:Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Correspondence to: Dr Vandana Jain, Additional Professor, Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, New Delhi 110 029, India. drvandanajain@gmail.com.
[Ti] Título:Distal Renal Tubular Acidosis Associated with Celiac Disease and Thyroiditis.
[So] Source:Indian Pediatr;53(11):1013-1014, 2016 Nov 15.
[Is] ISSN:0974-7559
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Association of distal renal tubular acidosis (RTA) with autoimmune diseases is extremely rare in children. CASE CHARACTERISTICS: 12-year-old girl with distal RTA. Despite resolution of acidosis on bicarbonate, she continued to have poor growth and delayed puberty. Investigations revealed autoimmune thyroiditis and celiac disease. OUTCOME: Levothyroxine and gluten-free diet were initiated. Child gained height and weight and had onset of puberty after gluten withdrawal. MESSAGE: Distal RTA in children may rarely be of autoimmune etiology.
[Mh] Termos MeSH primário: Acidose Tubular Renal
Doença Celíaca
Tireoidite
[Mh] Termos MeSH secundário: Criança
Feminino
Seres Humanos
Raquitismo Hipofosfatêmico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161128
[St] Status:MEDLINE


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[PMID]:27840894
[Au] Autor:Li SS; Gu JM; Yu WJ; He JW; Fu WZ; Zhang ZL
[Ad] Endereço:Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China.
[Ti] Título:Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.
[So] Source:Int J Mol Med;38(6):1703-1714, 2016 Dec.
[Is] ISSN:1791-244X
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Inactivating mutations in phosphate-regulating gene with homologies to endopeptidase on the X chromosome (PHEX) have been identified as a cause of X-linked hypophosphatemic rickets (XLH; OMIM 307800). In the present study, we enrolled 43 patients from 18 unrelated families clinically diagnosed with hypophosphatemic rickets and 250 healthy controls. For each available individual, all 22 exons with their exon-intron boundaries of the PHEX gene were directly sequenced. The levels of serum fibroblast growth factor 23 (FGF23) were measured as well. Sequencing analysis detected 17 different PHEX gene mutations, and 7 of these were identified as novel: 3 missense mutations, including c.304G>A (p.Gly102Arg) in exon 3, c.229T>C (p.Cys77Arg) in exon 3 and c.824T>C (p.Leu275Pro) in exon 7; 2 deletion mutations, including c.528delT (p.Glu177LysfsX44) in exon 5 and c.1234delA (p.Ser412ValfsX12) in exon 11; and 2 alternative splicing mutations, including c.436_436+1delAG in intron 4 at splicing donor sites and c.1483-1G>C in intron 13 at splicing acceptor sites. Moreover, 6 mutations were proven to be de novo in 6 sporadic cases and the probands were all females. No mutations were found in the 250 healthy controls. The serum levels of FGF23 varied widely among the patients with XLH, and no significant difference was found when compared with those of the healthy controls. On the whole, the findings of this study provide new insight into the spectrum of PHEX mutations and provide potential evidence of a critical domain in PHEX protein. In addition, the finding of an overlap of the serum FGF23 levels between the patients with XLH and the healthy controls indicates its limited diagnostic value in XLH.
[Mh] Termos MeSH primário: Mutação
Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
Raquitismo Hipofosfatêmico/diagnóstico
Raquitismo Hipofosfatêmico/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Sequência de Aminoácidos
Criança
Pré-Escolar
Sequência Conservada
Análise Mutacional de DNA
Éxons
Raquitismo Hipofosfatêmico Familiar/diagnóstico
Raquitismo Hipofosfatêmico Familiar/genética
Feminino
Fatores de Crescimento de Fibroblastos/sangue
Doenças Genéticas Ligadas ao Cromossomo X
Seres Humanos
Lactente
Masculino
Meia-Idade
Linhagem
Fenótipo
Raquitismo Hipofosfatêmico/sangue
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors); EC 3.4.24.- (PHEX Phosphate Regulating Neutral Endopeptidase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170314
[Lr] Data última revisão:
170314
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161115
[St] Status:MEDLINE
[do] DOI:10.3892/ijmm.2016.2796


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[PMID]:27444071
[Au] Autor:Lim YH; Ovejero D; Derrick KM; Collins MT; Choate KA; Yale Center for Mendelian Genomics
[Ad] Endereço:Departments of Dermatology, Pathology, and Genetics, Yale University School of Medicine, New Haven, Connecticut.
[Ti] Título:Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.
[So] Source:J Am Acad Dermatol;75(2):420-7, 2016 Aug.
[Is] ISSN:1097-6787
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: We recently demonstrated multilineage somatic mosaicism in cutaneous skeletal hypophosphatemia syndrome (CSHS), which features epidermal or melanocytic nevi, elevated fibroblast growth factor (FGF)-23, and hypophosphatemia, finding identical RAS mutations in affected skin and bone. OBJECTIVE: We sought to: (1) provide an updated overview of CSHS; (2) review its pathobiology; (3) present a new patient with CSHS; and (4) discuss treatment modalities. METHODS: We searched PubMed for "nevus AND rickets," and "nevus AND hypophosphatemia," identifying cases of nevi with hypophosphatemic rickets or elevated serum FGF-23. For our additional patient with CSHS, we performed histopathologic and radiographic surveys of skin and skeletal lesions, respectively. Sequencing was performed for HRAS, KRAS, and NRAS to determine causative mutations. RESULTS: Our new case harbored somatic activating HRAS p.G13 R mutation in affected tissue, consistent with previous findings. Although the mechanism of FGF-23 dysregulation is unknown in CSHS, interaction between FGF and MAPK pathways may provide insight into pathobiology. Anti-FGF-23 antibody KRN-23 may be useful in managing CSHS. LIMITATIONS: Multilineage RAS mutation in CSHS was recently identified; further studies on mechanism are unavailable. CONCLUSION: Patients with nevi in association with skeletal disease should be evaluated for serum phosphate and FGF-23. Further studies investigating the role of RAS in FGF-23 regulation are needed.
[Mh] Termos MeSH primário: Genes ras/genética
Mosaicismo
Nevo Pigmentado/genética
Osteomalacia/genética
Raquitismo Hipofosfatêmico/genética
Neoplasias Cutâneas/genética
[Mh] Termos MeSH secundário: Anticorpos Monoclonais/uso terapêutico
Fatores de Crescimento de Fibroblastos/sangue
Seres Humanos
Nevo Pigmentado/tratamento farmacológico
Osteomalacia/tratamento farmacológico
Raquitismo Hipofosfatêmico/tratamento farmacológico
Neoplasias Cutâneas/tratamento farmacológico
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (KRN23 monoclonal antibody); 0 (fibroblast growth factor 23); 62031-54-3 (Fibroblast Growth Factors)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160723
[St] Status:MEDLINE


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[PMID]:27150561
[Au] Autor:Gerin M; Jambon G; Fouque-Aubert A; Raybaud C; Cochat P; Claris O; Bacchetta J
[Ad] Endereço:Service de néphrologie, rhumatologie et dermatologie pédiatriques, Centre de référence des maladies rénales rares, hôpital Femme Mère Enfant, 59, boulevard Pinel, 69677 Bron, France; Département de pédiatrie, CHU de Grenoble, 38043 Grenoble, France.
[Ti] Título:Neonatal transient hypophosphatemic hypercalciuric rickets in dizygous twins: A role for maternal alendronate therapy before pregnancy or antireflux medications?
[So] Source:Arch Pediatr;23(9):957-62, 2016 Sep.
[Is] ISSN:1769-664X
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Bisphosphonates (BP) are sometimes used in children and young women, but their use requires expertise and caution due to the relative lack of long-term efficacy and safety data. CLINICAL CASES: We report on two dizygotic male twins with a past of mild prematurity who presented at the age of 2 months with moderate clinical craniotabes, hypophosphatemia, normal circulating calcium, severe hypercalciuria, and low parathyroid hormone levels. Following supplementation with oral phosphorus and native vitamin D, the clinical and biological abnormalities disappeared within 2 months. Since the twins were dizygotic and were identical in terms of clinical presentation and progression, the only likely explanation for these transient mineral abnormalities was prenatal or neonatal exposure to a toxic agent. Taking into account their medical past, two drugs were possibly involved: either oral alendronate that their mother had received before pregnancy for misdiagnosed osteoporosis or antireflux medications, or both. DISCUSSION: We believe that these two cases could correspond to the first description of a potential mother-to-fetus transmission of alendronate, inducing early and transient hypophosphatemic rickets, the clinical picture being worsened by the antireflux drugs impairing intestinal phosphate absorption. For pediatric rheumatologists, this raises the question of more clearly defining the indications for BP in female children and teenagers; for rheumatologists, this also demonstrates the importance of correctly diagnosing osteoporosis and not using BP off-label, especially in women of child-bearing age.
[Mh] Termos MeSH primário: Hipercalciúria/induzido quimicamente
Raquitismo Hipofosfatêmico/induzido quimicamente
[Mh] Termos MeSH secundário: Alendronato/efeitos adversos
Antiulcerosos/efeitos adversos
Conservadores da Densidade Óssea/efeitos adversos
Esomeprazol/efeitos adversos
Feminino
Seres Humanos
Lactente
Masculino
Hormônio Paratireóideo/sangue
Gravidez
Efeitos Tardios da Exposição Pré-Natal
Gêmeos Dizigóticos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Ulcer Agents); 0 (Bone Density Conservation Agents); 0 (Parathyroid Hormone); N3PA6559FT (Esomeprazole); X1J18R4W8P (Alendronate)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160507
[St] Status:MEDLINE


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[PMID]:26857895
[Au] Autor:Ferreira CR; Ziegler SG; Gupta A; Groden C; Hsu KS; Gahl WA
[Ad] Endereço:National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
[Ti] Título:Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
[So] Source:Am J Med Genet A;170A(5):1308-11, 2016 May.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Patients with generalized arterial calcification of infancy (GACI) develop vascular calcifications early in life. About half of them die within the first 6 months despite optimal medical care. A subset of those who survive eventually develop hypophosphatemic rickets. Since hypophosphatemia and hyperphosphaturia have been previously associated with increased survival in GACI patients, physicians often avoid phosphate repletion as treatment for rickets. As a consequence, GACI patients develop severe rachitic complications such as short stature and skeletal deformities. It appears that the recognition of hypophosphatemia later in life in some GACI patients is a consequence of having survived the first few months of life, and not the cause of their survival per se. Here, we report the long-term follow-up of a GACI patient who was phosphate-repleted for his rickets for more than 7 years without worsening of vascular calcification.
[Mh] Termos MeSH primário: Diester Fosfórico Hidrolases/genética
Pirofosfatases/genética
Raquitismo Hipofosfatêmico/tratamento farmacológico
Calcificação Vascular/tratamento farmacológico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Seguimentos
Seres Humanos
Masculino
Mutação
Fosfatos/administração & dosagem
Raquitismo Hipofosfatêmico/genética
Raquitismo Hipofosfatêmico/fisiopatologia
Calcificação Vascular/genética
Calcificação Vascular/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Phosphates); EC 3.1.4.- (Phosphoric Diester Hydrolases); EC 3.1.4.1 (ectonucleotide pyrophosphatase phosphodiesterase 1); EC 3.6.1.- (Pyrophosphatases)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160210
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37574



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