{"id":8734,"date":"2026-09-28T17:42:35","date_gmt":"2026-09-28T17:42:35","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=8734"},"modified":"2026-09-28T17:45:35","modified_gmt":"2026-09-28T17:45:35","slug":"raquitismo-y-salud-osea-en-errores-del-metabolismo-y-enfermedades-geneticas","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/raquitismo-y-salud-osea-en-errores-del-metabolismo-y-enfermedades-geneticas\/","title":{"rendered":"Rickets and bone health in metabolic errors and genetic diseases."},"content":{"rendered":"<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"457\" height=\"322\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8.png\" alt=\"\" class=\"wp-image-8738\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8.png 457w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8-17x12.png 17w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-8-300x211.png 300w\" sizes=\"(max-width: 457px) 100vw, 457px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"680\" height=\"817\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7.png\" alt=\"\" class=\"wp-image-8736\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7.png 680w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7-10x12.png 10w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2026\/09\/image-7-250x300.png 250w\" sizes=\"(max-width: 680px) 100vw, 680px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Differential diagnosis of rickets versus congenital metabolic errors and genetic disorders requires evaluating key biochemical markers, especially the <strong>Serum alkaline phosphatase (ALP)<\/strong>, el <strong>phosphate<\/strong> and <strong>calcium<\/strong>, since many rare conditions mimic the clinical and radiological presentation of common nutritional rickets.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Diagnostic Differential Key<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Hypophosphatemia (HPP)<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>Type:<\/em> Inherent metabolic disorder caused by mutations in the gene <em>ALPL<\/em> (Deficiency of alkaline phosphatase specific to tissue).<\/li>\n\n\n\n<li><em>Signatory:<\/em> <strong>Paradigmatically low levels of serum FA<\/strong> (while the common rickets raises it markedly), accompanied by elevation of phosphatidylcholine, risk of seizures and severe osteomalacia.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Hypophosphatemic Myopathy Hereditary:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>Type:<\/em> Genetic disorder of phosphate loss (e.g. linked to chromosome X by mutations in <em>PHEX<\/em>, or related autosomal forms <em>FGF23<\/em> o <em>DMP1<\/em>).<\/li>\n\n\n\n<li><em>Signatory:<\/em> <strong>Hypophosphatemia<\/strong> severe with low or normal levels of 1,25-dihydroxyvitamin D and elevated FA, but with <strong>normal levels of 25-hydroxyvitamin D<\/strong>.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Vitamin D-dependent rickets (VDDR)<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>Type 1A\/1B:<\/em> Genetic defects in the synthesis or bioactivation of vitamin D (enzyme deficiencies such as renal 1\u03b1-hydroxylase deficiency).<\/li>\n\n\n\n<li><em>2A\/2B:<\/em> Mutations in the vitamin D receptor (VDR).<\/li>\n\n\n\n<li><em>Signatory:<\/em> Type 2 presents extremely high levels of circulating 1,25-(OH)\u2082D and frequently is associated with <strong>total alopesia<\/strong>, which distinguishes it from classic rickets and type 1.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Fanconi syndrome (Acidotic Renal Tubular Dysplasia\/Tubulopathy)<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>Type:<\/em> Generalized distal tubular dysfunction, which may be inherited (secondary to cystinosis, Wilson's disease, etc.) or acquired.<\/li>\n\n\n\n<li><em>Signatory:<\/em> Massive urinary loss of phosphate, glucose, amino acids and bicarbonate, causing systemic acidosis and hypophosphatemic osteomalacia.<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Osteolytic lesions and Storage diseases:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>Jensen's metaphyseal dysplasia<\/em> Autosomal dominant rare condition that mimics metaphysical alterations of scoliosis.<\/li>\n\n\n\n<li><em>Mucopolysaccharidosis:<\/em> Can debut with skeletal deformities that confuse with scoliosis in early stages.<\/li>\n\n\n\n<li><em>Osteog\u00e9nesis Imperfecta:<\/em> Defectos in the collagen that cause frequent fractures and osteoporosis, sometimes resembling severe rickets.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Basic Screening Strategy<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Determine <strong>calcium, phosphorus, magnesium and FA in serum<\/strong>.<\/li>\n\n\n\n<li>Measure <strong>25-Hydroxyvitamin D<\/strong> y <strong>1,25-Dihydroxyvitamin D<\/strong>.<\/li>\n\n\n\n<li>Evaluate the <strong>renal tubular function<\/strong> (urinary phosphate, amino acids, glucose, and blood\/urine pH) to exclude Fanconi syndrome or isolated phosphate loss.<\/li>\n<\/ol>","protected":false},"excerpt":{"rendered":"<p>Differential diagnosis of rickets versus inborn errors of metabolism and genetic disorders requires evaluation of key biochemical markers, especially serum alkaline phosphatase (ALP), phosphate, and calcium, as many rare conditions mimic the clinical and radiological presentation of common nutritional rickets. Key Differential Diagnosis Basic Diagnostic Screening Strategy<\/p>","protected":false},"author":1,"featured_media":8739,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-8734","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/8734","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=8734"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/8734\/revisions"}],"predecessor-version":[{"id":8740,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/8734\/revisions\/8740"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/8739"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=8734"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=8734"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=8734"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}