Case Report
X-linked hypophosphatemic rickets: Diagnosis in adult and paucisymptomatic form
Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática
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Multiple fracture calluses in right costal area.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">X-linked hypophosphataemic rickets (XLH) is a hereditary disease caused by mutation of the PHEX gene located on locus Xp22.11.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> This gene codes for phosphate-regulating endopeptidase whose function is to inhibit fibroblast growth factor 23 (FGF-23). Increased FGF-23 decreases tubular phosphate resorption (TPR) and Alpha-1-hydroxylase activity, resulting in reduced serum levels of 1.25-dihydroxyvitamin D, hypophosphaturia and hypophosphataemia.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">The main clinical findings include rickets, osteomalacia, growth retardation, bone pain and enthesopathies. However, there are paucisymptomic forms that only manifest with chronic pain, osteoarthritis and muscle weakness, this hinders and delays diagnosis, requiring multidisciplinary management.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a> Treatment is based on phosphorus and calcitriol supplements; however, the appearance of the human monoclonal anti-FGF23 antibody enables the disease mechanism to be blocked and its natural history modified.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0015" class="elsevierStylePara elsevierViewall">A 35-year-old male with a history of chronic disabling low back pain and myalgias of several years’ duration, without signs of osteoarthritis or constitutional symptoms, referred for assessment by rheumatology. Physical examination was normal, height 185<span class="elsevierStyleHsp" style=""></span>cm and BP 145/85<span class="elsevierStyleHsp" style=""></span>mmHg. Of note in the complementary tests: phosphorus 1.7<span class="elsevierStyleHsp" style=""></span>mg/dl (normal range [NR]: 2.7–4.5<span class="elsevierStyleHsp" style=""></span>mg/dl), parathyroid hormone 85.2<span class="elsevierStyleHsp" style=""></span>pg/ml (NR: 15–65<span class="elsevierStyleHsp" style=""></span>pg/ml), 1.25 dihidroxyvitamin D 18.7<span class="elsevierStyleHsp" style=""></span>ng/ml (NR: ≥30<span class="elsevierStyleHsp" style=""></span>ng/ml), creatinine .9<span class="elsevierStyleHsp" style=""></span>mg/dl (NR: .5–.95<span class="elsevierStyleHsp" style=""></span>mg/dl), alkaline phosphatase 167<span class="elsevierStyleHsp" style=""></span>I/U (NR: 35–105<span class="elsevierStyleHsp" style=""></span>l/U), phosphaturia 2.088<span class="elsevierStyleHsp" style=""></span>mg/24<span class="elsevierStyleHsp" style=""></span>h with TRP of 55% (NR: ≥80%). The rest of the results were normal.</p><p id="par0020" class="elsevierStylePara elsevierViewall">He presented multiple fractures in the ribs and right scapula due to an accidental fall (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) and densitometry with signs of osteopenia in the spine. In view of these findings, treatment with phosphate, calcitriol and analgesics was started.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">Tumour osteomalacia was ruled out as a possible cause, and therefore a genetic study was carried out which confirmed the diagnosis of XLH with mutation in the PHEX gene (4c.1645t). Treatment with phosphorus and calcitriol is currently being maintained, but the low back pain persists greatly affecting the patient's quality of life. Therefore, this patient would be a good candidate for burosumab.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0030" class="elsevierStylePara elsevierViewall">Diagnosing rare diseases is a challenge, especially XLH, whose phenotypic expression is very variable. Although most cases are diagnosed during childhood, this case is an example of a form of presentation that is not very expressive and has a wide differential diagnosis that could require the participation of various specialists.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Genetic tests help in the cases with atypical presentations or in adulthood where tumoral osteomalacia is the main possibility. Classical treatment with phosphate and calcitriol leads to side effects that limit adherence to treatment in the long term, but treatment with burosumab has shown very positive results in children as well as adults.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4,5</span></a> It has been related to clinical improvement, correction of deformities, normalisation of growth and phosphorus levels in a sustained manner, with good results also in patients who, although they have completed their growth, continue with significant limitations to their quality of life due to the sequelae of the disease.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">6,7</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">In conclusion, we must be alert to these cases of XLH of difficult diagnosis due to their paucisymptomatic presentation that can be referred to us without a diagnosis in adulthood. Burosumab could be very useful in the treatment of adult patients with significant limitations to their quality of life.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interests</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors have no conflict of interests to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres1457068" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1328176" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1457067" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1328175" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinical case" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2019-06-07" "fechaAceptado" => "2019-07-31" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1328176" "palabras" => array:3 [ 0 => "X-linked hypophosphataemic rickets" 1 => "Osteomalacia" 2 => "Burosumab" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1328175" "palabras" => array:3 [ 0 => "Raquitismo hipofosfatémico ligado al cromosoma X" 1 => "Osteomalacia" 2 => "Burosumab" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">X-linked hypophosphataemic rickets (XLH) is the main form of hereditary rickets caused by mutation of the PHEX gene and occurs mainly in childhood. Clinically, it causes growth retardation and bone deformities; however, there are atypical forms of presentation that make diagnosis difficult. We present a case of XLH of late diagnosis and paucisymptomatic form with multiple fractures and greatly affecting quality of life, under treatment with traditional therapy for this disease.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">El raquitismo hipofosfatémico ligado al cromosoma X (XLH) es la principal forma de raquitismo hereditario causada por la mutación del gen PHEX y que se manifiesta principalmente en la infancia. Clínicamente cursa con retraso en el crecimiento y deformidades óseas, sin embargo, existen formas de presentación atípicas que dificultan el diagnóstico. Presentamos un caso de XLH con diagnóstico tardío y forma paucisintomática que presenta múltiples fracturas y gran afectación en su calidad de vida, en tratamiento con la terapia clásica para esta enfermedad.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: López-Romero LC, Broseta JJ, Olmos EG, Devesa-Such RJ, Hernández-Jaras J. Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática. Reumatol Clin. 2021;17:116–117.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 670 "Ancho" => 750 "Tamanyo" => 77047 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Right scapula fracture. Multiple fracture calluses in right costal area.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0040" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "M.P. Whyte" 1 => "F.W. Schranck" 2 => "R. Armamento-Villareal" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1210/jcem.81.11.8923863" "Revista" => array:6 [ "tituloSerie" => "J Clin Endocrinol Metab" "fecha" => "1996" "volumen" => "81" "paginaInicial" => "4075" "paginaFinal" => "4080" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8923863" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0045" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "B. Yuan" 1 => "M. Takaiwa" 2 => "T.L. Clemens" 3 => "J.Q. Feng" 4 => "R. Kumar" 5 => "P.S. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 20 | 11 | 31 |
| 2024 October | 94 | 30 | 124 |
| 2024 September | 88 | 13 | 101 |
| 2024 August | 98 | 33 | 131 |
| 2024 July | 89 | 18 | 107 |
| 2024 June | 90 | 29 | 119 |
| 2024 May | 85 | 30 | 115 |
| 2024 April | 94 | 30 | 124 |
| 2024 March | 81 | 25 | 106 |
| 2024 February | 97 | 25 | 122 |
| 2024 January | 77 | 20 | 97 |
| 2023 December | 76 | 30 | 106 |
| 2023 November | 69 | 29 | 98 |
| 2023 October | 78 | 24 | 102 |
| 2023 September | 115 | 36 | 151 |
| 2023 August | 66 | 18 | 84 |
| 2023 July | 66 | 18 | 84 |
| 2023 June | 61 | 38 | 99 |
| 2023 May | 81 | 25 | 106 |
| 2023 April | 41 | 17 | 58 |
| 2023 March | 68 | 29 | 97 |
| 2023 February | 60 | 31 | 91 |
| 2023 January | 64 | 26 | 90 |
| 2022 December | 75 | 26 | 101 |
| 2022 November | 82 | 39 | 121 |
| 2022 October | 66 | 33 | 99 |
| 2022 September | 53 | 31 | 84 |
| 2022 August | 60 | 38 | 98 |
| 2022 July | 56 | 35 | 91 |
| 2022 June | 51 | 31 | 82 |
| 2022 May | 65 | 38 | 103 |
| 2022 April | 84 | 35 | 119 |
| 2022 March | 75 | 55 | 130 |
| 2022 February | 90 | 41 | 131 |
| 2022 January | 83 | 32 | 115 |
| 2021 December | 54 | 42 | 96 |
| 2021 November | 64 | 56 | 120 |
| 2021 October | 102 | 65 | 167 |
| 2021 September | 80 | 39 | 119 |
| 2021 August | 38 | 31 | 69 |
| 2021 March | 1 | 2 | 3 |
| 2021 February | 2 | 2 | 4 |
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