Letter to the Editor
Idiopathic Hypophosphatemic Osteomalacia
Osteomalacia hipofosfatémica idiopática
Piedad León Rubio
, Manuel Baturone Castillo
Corresponding author
Servicio de Reumatología, Centro de Enfermedades del Aparato Locomotor, Sevilla, Spain
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He presented muscle and bone pain lasting 3 years that limited movement. She reported no dentition or audiological changes, no prior medication or family history of kidney or bone disease.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Laboratory analysis showed: normal CBC and venous blood gases, renal and hepatic profiles were normal except for elevated alkaline phosphatase (443<span class="elsevierStyleHsp" style=""></span>IU/L for n<136), normocalcemia and hypophosphatemia 0.60<span class="elsevierStyleHsp" style=""></span>mmol/L (n<span class="elsevierStyleItalic">=</span>0.7–1.60) and elevated iPTH (79.8<span class="elsevierStyleHsp" style=""></span>ng/L for n<span class="elsevierStyleItalic"><</span>67) with normal values of 1.25 OHD and 25(OH)<span class="elsevierStyleInf">2</span>D. The 24-h urine had normal calcium and phosphate, with no other useful information. Hydroxyprolinuria of 41.4<span class="elsevierStyleHsp" style=""></span>mg/L (<17/24<span class="elsevierStyleHsp" style=""></span>h/m<span class="elsevierStyleSup">2</span>).</p><p id="par0020" class="elsevierStylePara elsevierViewall">Suspecting hypophosphatemic osteomalacia we obtained the following test results in search of its etiology: normal serum protein on electrophoresis with absence of Bences Jones protein in the urine, normal tumor markers (carcinoembryonic antigen CEA, 15.3, 19.9, 125, alphaglycoprotein); we studied the patient for possible digestive malabsorption syndrome (endoscopic, X-ray study, histological and celiac antibodies) but results were negative; parathyroid study (neck ultrasound and sestamibi scintigraphy) was normal as were chest X-rays and abdominal ultrasound; a bone scan with Tc<span class="elsevierStyleSup">99</span> showed multiple uptake areas in the ribs, heel, and periprosthetically in both hips and peripheral joints (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Suspecting a possible oncogenic cause we performed an 11<span class="elsevierStyleHsp" style=""></span>in.-octreotide scintigraphy for the detection of somatostatin receptors which resulted negative. Bone mineral density (BMD) of the lumbar spine (L2–L4) was 0.596<span class="elsevierStyleHsp" style=""></span>g/m<span class="elsevierStyleSup">2</span> with a T score of −4.74. We did not study the levels of fibroblast growth factor (FGF-23).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">We started treatment with calcitriol (0.75<span class="elsevierStyleHsp" style=""></span>mcg/24<span class="elsevierStyleHsp" style=""></span>h) and sodium phosphate (Phosphate-Sandoz<span class="elsevierStyleSup">®</span>, 2<span class="elsevierStyleHsp" style=""></span>g/24<span class="elsevierStyleHsp" style=""></span>h) achieving normalization of blood phosphorus levels, iPTH and FA, with subsequent hyperphosphaturia in urine 24<span class="elsevierStyleHsp" style=""></span>h (2538<span class="elsevierStyleHsp" style=""></span>mg/L) which had not previously been observed. After this parameter normalized we added strontium ranelate treatment for the treatment of osteoporosis. The patient's symptoms gradually improved. Three years after the diagnosis, after initiating treatment, the patient can walk, mineral metabolism analytical controls are normal as well as the Tc<span class="elsevierStyleSup">99</span> bone scintigraphy. The latest lumbar spine densitometry (L2–L4) shows 0.744<span class="elsevierStyleHsp" style=""></span>g/m<span class="elsevierStyleSup">2</span>, with a T score of −2.93 and a −0.82 Z score.</p><p id="par0030" class="elsevierStylePara elsevierViewall">The parameters studied suggest that this case corresponds to osteomalacia characterized by insufficient mineralization of the osteoid formation in new bone metabolism points. Different diseases can lead to osteomalacia through mechanisms that cause hypocalcemia, hypophosphatemia or defects in the mineralization process.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> In this case, the slight decrease in phosphoremia suggests that it is hypophosphatemic osteomalacia. Interestingly, phosphoremia was initially accompanied with normality of phosphaturia probably due to a severe depletion of phosphate reserves, responsible in turn of the evolved osteomalacia process with atraumatic fractures and crippling myopathy.</p><p id="par0035" class="elsevierStylePara elsevierViewall">The case of the patient under study is remarkable because it was not associated with any of the causes described in hypophosphatemic osteomalacia<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1–4</span></a>: (i) no family history or other evidence of heredity (e.g. abnormal dentition), (ii) no deficit of phosphate in the diet, (iii) or an association with any drug, (iv) no abnormalities were found that made us suspect a parathyroid endocrine origin; (v) no digestive malabsorption disorders or (vi) kidney problems; (vii) finally, the normality of 11<span class="elsevierStyleHsp" style=""></span>in.-octreotide scintigraphy, tumor markers, Bences Jones proteins in the urine, and abdominal ultrasonography Chest X-rays suggest an unlikely oncogenic source.</p><p id="par0040" class="elsevierStylePara elsevierViewall">We could not, to date, find the mechanism that caused the disturbance, which require us to classify it as idiopathic and keep looking for new possible causes of this disease. Known cases of idiopathic hypophosphatemic osteomalacia are rare.<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,6</span></a> However, treatment based on phosphate supplementation has been effective in stabilizing blood phosphorus levels, but leads to a mild phosphaturia, to be expected based on the contribution.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Conflict of Interest</span><p id="par0045" class="elsevierStylePara elsevierViewall">The authors have no disclosures to make.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Conflict of Interest" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please, cite this article as: León Rubio P, Baturone Castillo M. Osteomalacia hipofosfatémica idiopática. Reumatol Clin. 2013;9:327–328.</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" => 2558 "Ancho" => 1660 "Tamanyo" => 249411 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Scintiscan Uptake in Multiple Ribs, Fractured Left Hip, Left Calcaneus and Peripheral Joints.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Vitamin D-related disorders" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "P. 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Young" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Clin Chem" "fecha" => "1992" "volumen" => "38" "paginaInicial" => "104" "paginaFinal" => "107" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1733579" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/21735743/0000000900000005/v2_201403300049/S2173574313000567/v2_201403300049/en/main.assets" "Apartado" => array:4 [ "identificador" => "8400" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Letters to the Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735743/0000000900000005/v2_201403300049/S2173574313000567/v2_201403300049/en/main.pdf?idApp=UINPBA00004M&text.app=https://reumatologiaclinica.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173574313000567?idApp=UINPBA00004M" ]
| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 12 | 12 | 24 |
| 2024 October | 80 | 35 | 115 |
| 2024 September | 83 | 27 | 110 |
| 2024 August | 102 | 43 | 145 |
| 2024 July | 93 | 30 | 123 |
| 2024 June | 93 | 28 | 121 |
| 2024 May | 85 | 32 | 117 |
| 2024 April | 76 | 24 | 100 |
| 2024 March | 75 | 30 | 105 |
| 2024 February | 72 | 26 | 98 |
| 2024 January | 95 | 23 | 118 |
| 2023 December | 59 | 27 | 86 |
| 2023 November | 54 | 29 | 83 |
| 2023 October | 69 | 29 | 98 |
| 2023 September | 75 | 38 | 113 |
| 2023 August | 51 | 20 | 71 |
| 2023 July | 65 | 23 | 88 |
| 2023 June | 63 | 23 | 86 |
| 2023 May | 80 | 24 | 104 |
| 2023 April | 53 | 21 | 74 |
| 2023 March | 86 | 34 | 120 |
| 2023 February | 67 | 26 | 93 |
| 2023 January | 72 | 36 | 108 |
| 2022 December | 62 | 42 | 104 |
| 2022 November | 95 | 42 | 137 |
| 2022 October | 81 | 34 | 115 |
| 2022 September | 65 | 26 | 91 |
| 2022 August | 67 | 37 | 104 |
| 2022 July | 65 | 35 | 100 |
| 2022 June | 66 | 40 | 106 |
| 2022 May | 63 | 46 | 109 |
| 2022 April | 100 | 42 | 142 |
| 2022 March | 111 | 51 | 162 |
| 2022 February | 106 | 41 | 147 |
| 2022 January | 78 | 39 | 117 |
| 2021 December | 52 | 43 | 95 |
| 2021 November | 62 | 54 | 116 |
| 2021 October | 82 | 56 | 138 |
| 2021 September | 62 | 44 | 106 |
| 2021 August | 57 | 34 | 91 |
| 2021 July | 245 | 42 | 287 |
| 2021 June | 64 | 37 | 101 |
| 2021 May | 53 | 26 | 79 |
| 2021 April | 116 | 63 | 179 |
| 2021 March | 93 | 15 | 108 |
| 2021 February | 76 | 25 | 101 |
| 2021 January | 59 | 17 | 76 |
| 2020 December | 105 | 14 | 119 |
| 2020 November | 64 | 13 | 77 |
| 2020 October | 123 | 12 | 135 |
| 2020 September | 41 | 25 | 66 |
| 2020 August | 30 | 13 | 43 |
| 2020 July | 31 | 15 | 46 |
| 2020 June | 39 | 19 | 58 |
| 2020 May | 24 | 14 | 38 |
| 2020 April | 30 | 17 | 47 |
| 2020 March | 16 | 9 | 25 |
| 2020 February | 1 | 0 | 1 |
| 2019 May | 0 | 0 | 0 |
| 2019 April | 2 | 0 | 2 |
| 2019 January | 1 | 0 | 1 |
| 2018 May | 9 | 0 | 9 |
| 2018 April | 52 | 6 | 58 |
| 2018 March | 70 | 8 | 78 |
| 2018 February | 71 | 3 | 74 |
| 2018 January | 63 | 3 | 66 |
| 2017 December | 27 | 4 | 31 |
| 2017 November | 29 | 1 | 30 |
| 2017 October | 38 | 7 | 45 |
| 2017 September | 33 | 7 | 40 |
| 2017 August | 35 | 7 | 42 |
| 2017 July | 30 | 9 | 39 |
| 2017 June | 51 | 8 | 59 |
| 2017 May | 61 | 13 | 74 |
| 2017 April | 39 | 5 | 44 |
| 2017 March | 53 | 2 | 55 |
| 2017 February | 19 | 3 | 22 |
| 2017 January | 28 | 5 | 33 |
| 2016 December | 66 | 8 | 74 |
| 2016 November | 54 | 8 | 62 |
| 2016 October | 72 | 10 | 82 |
| 2016 September | 50 | 5 | 55 |
| 2016 August | 45 | 7 | 52 |
| 2016 July | 26 | 4 | 30 |
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