{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T09:56:32Z","timestamp":1781862992508,"version":"3.54.5"},"reference-count":82,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Renal tubular disorders are often overlooked causes of acquired or inherited bone hypomineralization and fragility fractures in adults. The proximal tubule reabsorbs glucose, phosphate, low-molecular-weight proteins, amino acids, bicarbonate, and much of the sodium, potassium, chloride, and calcium. The distal nephron\u2014the thick ascending limb of the loop of Henle, the distal convoluted tubule, and the collecting duct\u2014regulates urine concentration and dilution, maintains acid-base balance via urinary proton secretion, and controls electrolytes, including sodium, potassium, magnesium, and calcium. Tubular defects may cause hyperphosphaturia (high urinary phosphate), hypercalciuria (high urinary calcium), or chronic metabolic acidosis (renal tubular acidosis, RTA). These changes weaken bone mineralization, disrupt bone turnover, and raise the risk of muscle weakness and fractures. This review summarizes acquired and genetic tubulopathies linked to hyperphosphaturia, hypercalciuria, and RTA and outlines a practical diagnostic approach for outpatients with bone fragility and suspected renal tubulopathy.<\/jats:p>","DOI":"10.3390\/diagnostics16121898","type":"journal-article","created":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T09:18:43Z","timestamp":1781860723000},"page":"1898","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4565-7404","authenticated-orcid":false,"given":"Carlos Perez","family":"Gomes","sequence":"first","affiliation":[{"name":"Nephrology Division, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-617, Brazil"},{"name":"School of Medicine and Surgery, Federal University of the State of Rio de Janeiro (UNIRIO), Rio de Janeiro 20270-330, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alinie da Silva","family":"Pichone","sequence":"additional","affiliation":[{"name":"Nephrology Division, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-617, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0466-3250","authenticated-orcid":false,"given":"Maria Lucia Fleiuss de","family":"Farias","sequence":"additional","affiliation":[{"name":"Endocrinology Division, Faculty of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro 21941-617, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"879","DOI":"10.3345\/cep.2025.00976","article-title":"Long-term epidemiological insights into rickets: A nationwide population-based retrospective study","volume":"68","author":"Chu","year":"2025","journal-title":"Clin. Exp. Pediatr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1007\/s00467-021-05328-w","article-title":"Rickets guidance: Part I-diagnostic workup","volume":"37","author":"Haffner","year":"2022","journal-title":"Pediatr. Nephrol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.4103\/2230-8210.119503","article-title":"Renal rickets-practical approach","volume":"17","author":"Sahay","year":"2013","journal-title":"Indian J. Endocrinol. Metab."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"133","DOI":"10.14740\/jmc5281","article-title":"Hypophosphatemic Osteomalacia Induced by Low-Dose Adefovir-Related Fanconi Syndrome","volume":"17","author":"Kim","year":"2026","journal-title":"J. Med. Cases"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Arboleya, L., Bra\u00f1a, I., Pardo, E., Loredo, M., and Queiro, R. (2023). Osteomalacia in Adults: A Practical Insight for Clinicians. J. Clin. Med., 12.","DOI":"10.3390\/jcm12072714"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1053\/j.ajkd.2023.04.017","article-title":"Calcium and Phosphate Disorders: Core Curriculum 2024","volume":"83","author":"Murray","year":"2024","journal-title":"Am. J. Kidney Dis."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Antonowicz, A., Lipi\u0144ski, P., Popow, M., and Skrzypczyk, P. (2025). Approach to a Child with Hypophosphatemia. Biomolecules, 15.","DOI":"10.3390\/biom15091321"},{"key":"ref_8","first-page":"22","article-title":"Osteomalacia and Renal Osteodystrophy","volume":"105","author":"Modest","year":"2022","journal-title":"Rhode Isl. Med. J."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Erben, R.G. (2019). Editorial: Endocrine and Paracrine Role of FGF23 and Klotho in Health and Disease. Front. Endocrinol., 10.","DOI":"10.3389\/fendo.2019.00002"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"8821292","DOI":"10.1155\/2021\/8821292","article-title":"FGF23: A Review of Its Role in Mineral Metabolism and Renal and Cardiovascular Disease","volume":"2021","author":"Kurpas","year":"2021","journal-title":"Dis. Markers"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"ziae176","DOI":"10.1093\/jbmrpl\/ziae176","article-title":"Understanding the structural biology of osteomalacia through multiscale 3D X-ray and electron tomographic imaging: A review of X-linked hypophosphatemia, the","volume":"9","author":"Buss","year":"2025","journal-title":"JBMR Plus"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.arcped.2021.09.005","article-title":"X-linked hypophosphatemia: The medical expert\u2019s challenges and the patient\u2019s concerns on their journey with the disease","volume":"28","author":"Hamdy","year":"2021","journal-title":"Arch. Pediatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"101772","DOI":"10.1016\/j.bonr.2024.101772","article-title":"Tumor-induced osteomalacia: A systematic literature review","volume":"21","author":"Maneiro","year":"2024","journal-title":"Bone Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"120","DOI":"10.4248\/BR201302002","article-title":"FGF23 and Phosphate Wasting Disorders","volume":"1","author":"Huang","year":"2013","journal-title":"Bone Res."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Walker, V. (2024). The Intricacies of Renal Phosphate Reabsorption-An Overview. Int. J. Mol. Sci., 25.","DOI":"10.20944\/preprints202403.1532.v1"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"7785","DOI":"10.12998\/wjcc.v11.i32.7785","article-title":"Adult-onset hypophosphatemic osteomalacia as a cause of widespread musculoskeletal pain: A retrospective case series of single center experience","volume":"11","author":"Kim","year":"2023","journal-title":"World J. Clin. Cases"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Nicoli, F., Dito, G., Guabello, G., Longhi, M., and Corbetta, S. (2021). Hypercalciuria in Postmenopausal Women with Reduced Bone Mineral Density Is Associated with Different Mineral Metabolic Profiles: Effects of Treatment with Thiazides and Anti-resorptives. Front. Med., 8.","DOI":"10.3389\/fmed.2021.780087"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"ziaf089","DOI":"10.1093\/jbmrpl\/ziaf089","article-title":"High prevalence of laboratory abnormalities indicative of secondary osteoporosis detected by systematic testing","volume":"9","author":"Shah","year":"2025","journal-title":"JBMR Plus"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1097\/MNH.0000000000000239","article-title":"Claudins and mineral metabolism","volume":"25","author":"Hou","year":"2016","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"ref_20","first-page":"e81778","article-title":"Idiopathic Hypercalciuria: A Comprehensive Review of Clinical Insights and Management Strategies","volume":"17","author":"Meher","year":"2025","journal-title":"Cureus"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"137","DOI":"10.5409\/wjcp.v10.i6.137","article-title":"Beyond kidney stones: Why pediatricians should worry about hypercalciuria","volume":"10","author":"Penido","year":"2021","journal-title":"World J. Clin. Pediatr."},{"key":"ref_22","first-page":"118","article-title":"Bone disease in primary hypercalciuria","volume":"5","author":"Sella","year":"2008","journal-title":"Clin. Cases Min. Bone Metab."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3949\/ccjm.85a.16090","article-title":"Idiopathic hypercalciuria: Can we prevent stones and protect bones?","volume":"85","author":"Ryan","year":"2018","journal-title":"Cleve Clin. J. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"110737","DOI":"10.1016\/j.celrep.2022.110737","article-title":"Structural basis of TRPV5 regulation by physiological and pathophysiological modulators","volume":"39","author":"Fluck","year":"2022","journal-title":"Cell Rep."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/s41431-024-01589-9","article-title":"Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria","volume":"32","author":"Cetinkaya","year":"2024","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/j.kint.2019.05.029","article-title":"TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis","volume":"96","author":"Schreuder","year":"2019","journal-title":"Kidney Int."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"F1337","DOI":"10.1152\/ajprenal.00273.2015","article-title":"Ways of calcium reabsorption in the kidney","volume":"310","author":"Moor","year":"2016","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"ref_28","first-page":"e82931","article-title":"Bone Metabolism Defects in Children with Idiopathic Hypercalciuria: An Update","volume":"17","author":"Pavlou","year":"2025","journal-title":"Cureus"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/embj.201284188","article-title":"FGF23 promotes renal calcium reabsorption through the TRPV5 channel","volume":"33","author":"Andrukhova","year":"2014","journal-title":"EMBO J."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1016\/j.kint.2022.02.032","article-title":"Effects of acid on bone","volume":"101","author":"Bushinsky","year":"2022","journal-title":"Kidney Int."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"117466","DOI":"10.1016\/j.bone.2025.117466","article-title":"Extracellular pH is a critical regulator of osteoclast fusion, size and activation","volume":"195","author":"Davies","year":"2025","journal-title":"Bone"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1159\/000528089","article-title":"Renal Mechanisms for Hypercalciuria Induced by Metabolic Acidosis","volume":"53","author":"Kim","year":"2022","journal-title":"Am. J. Nephrol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1159\/000479279","article-title":"Review of the Diagnostic Evaluation of Normal Anion Gap Metabolic Acidosis","volume":"3","author":"Berend","year":"2017","journal-title":"Kidney Dis."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1159\/000531556","article-title":"Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis","volume":"9","author":"Guo","year":"2023","journal-title":"Kidney Dis."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1053\/j.ajkd.2024.08.014","article-title":"Renal Tubular Acidosis: Core Curriculum 2025","volume":"85","author":"Bonner","year":"2025","journal-title":"Am. J. Kidney Dis."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"331","DOI":"10.5414\/CN108541","article-title":"Tubular dysfunction in renal transplant patients using sirolimus or tacrolimus","volume":"83","author":"Banhara","year":"2015","journal-title":"Clin. Nephrol."},{"key":"ref_37","first-page":"e20240016","article-title":"Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv)","volume":"46","author":"Fernandes","year":"2024","journal-title":"J. Bras. Nefrol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1159\/000510158","article-title":"Causes and Consequences of Metabolic Acidosis in Patients after Kidney Transplantation","volume":"45","author":"Ritter","year":"2020","journal-title":"Kidney Blood Press Res."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1007\/s12325-020-01587-5","article-title":"Renal Tubular Acidosis and Management Strategies: A Narrative Review","volume":"38","author":"Palmer","year":"2021","journal-title":"Adv. Ther."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Sobh, M.M., Abdalbary, M., Elnagar, S., Nagy, E., Elshabrawy, N., Abdelsalam, M., Asadipooya, K., and El-Husseini, A. (2022). Secondary Osteoporosis and Metabolic Bone Diseases. J. Clin. Med., 11.","DOI":"10.3390\/jcm11092382"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1053\/j.ackd.2018.05.007","article-title":"Incomplete Distal Renal Tubular Acidosis and Kidney Stones","volume":"25","author":"Fuster","year":"2018","journal-title":"Adv. Chronic Kidney Dis."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Argyropoulos, C.P., Chen, S.S., Ng, Y.H., Roumelioti, M.E., Shaffi, K., Singh, P.P., and Tzamaloukas, A.H. (2017). Rediscovering Beta-2 Microglobulin As a Biomarker across the Spectrum of Kidney Diseases. Front. Med., 4.","DOI":"10.3389\/fmed.2017.00073"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.bjid.2015.05.004","article-title":"Urine alpha1-microglobulin is a better marker for early tubular dysfunction than beta2-microglobulin among tenofovir-exposed human immunodeficiency virus-infected men who have sex with men","volume":"19","author":"Kang","year":"2015","journal-title":"Braz. J. Infect. Dis."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1177\/000456329803500203","article-title":"Renal tubular reabsorption of phosphate (TmP\/GFR): Indications and interpretation","volume":"35","author":"Payne","year":"1998","journal-title":"Ann. Clin. Biochem."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"100168","DOI":"10.1016\/j.crphys.2025.100168","article-title":"Mechanisms involved in aminoacidurias: Impacts of genetic and environmental factors","volume":"8","author":"Ajayi","year":"2025","journal-title":"Curr. Res. Physiol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1007\/s00467-015-3083-9","article-title":"Clinical and laboratory approaches in the diagnosis of renal tubular acidosis","volume":"30","author":"Santos","year":"2015","journal-title":"Pediatr. Nephrol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1681\/ASN.2020101509","article-title":"The Urine Anion Gap: Common Misconceptions","volume":"32","author":"Uribarri","year":"2021","journal-title":"J. Am. Soc. Nephrol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"22783","DOI":"10.1038\/s41598-025-05249-w","article-title":"Urine anion and osmolality gaps in the comprehensive evaluation of acid base balance across different levels of kidney function","volume":"15","author":"Ito","year":"2025","journal-title":"Sci. Rep."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"267","DOI":"10.23876\/j.krcp.19.056","article-title":"Proximal renal tubular acidosis with and without Fanconi syndrome","volume":"38","author":"Kashoor","year":"2019","journal-title":"Kidney Res. Clin. Pract."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.pathol.2025.12.001","article-title":"Heritable metabolic bone disorders: A guide to current genetic testing and clinical management for adult endocrinologists","volume":"58","author":"Kumar","year":"2026","journal-title":"Pathology"},{"key":"ref_51","first-page":"22-0259","article-title":"Tenofovir-induced hypophosphatemic osteomalacia: How do bone mineral density, trabecular bone score and proximal hip geometry change with treatment?","volume":"2023","author":"Joseph","year":"2023","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"G\u00f3mez-Garc\u00eda, F., Mart\u00ednez-Pulleiro, R., Carrera, N., Allegue, C., and Garcia-Gonzalez, M.A. (2022). Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies. Cells, 11.","DOI":"10.3390\/cells11091571"},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Alamilla-Sanchez, M., Alcal\u00e1 Salgado, M.A., Ulloa Galv\u00e1n, V.M., Yanez Salguero, V., Yam\u00e1 Estrella, M.B., Morales L\u00f3pez, E.F., Ramos Garc\u00eda, N.A., Carbajal Z\u00e1rate, M.O., Salazar Hurtado, J.D., and Delgado Pineda, D.A. (2025). Understanding Renal Tubular Function: Key Mechanisms, Clinical Relevance, and Comprehensive Urine Assessment. Pathophysiology, 32.","DOI":"10.3390\/pathophysiology32030033"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"S792","DOI":"10.1093\/infdis\/jix135","article-title":"Tenofovir Alafenamide Fumarate: A New Tenofovir Prodrug for the Treatment of Chronic Hepatitis B Infection","volume":"216","author":"Buti","year":"2017","journal-title":"J. Infect. Dis."},{"key":"ref_55","first-page":"e45787","article-title":"Tenofovir-Induced Renal Dysfunction Among HIV-Infected Patients: A Systematic Review","volume":"15","author":"Shivakumar","year":"2023","journal-title":"Cureus"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.eprac.2022.09.007","article-title":"Phosphatonins: From Discovery to Therapeutics","volume":"29","author":"Kritmetapak","year":"2023","journal-title":"Endocr. Pract."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Peraire, M., Guimer\u00e0, J., Costa-Bauz\u00e1, A., Sanch\u00eds, P., Grases, F., and Pieras, E. (2025). Low-Dose Indapamide vs. Hydrochlorothiazide in Idiopathic Hypercalciuria: A Randomized Prospective Trial. J. Clin. Med., 14.","DOI":"10.3390\/jcm14207426"},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Milart, J., Lewicka, A., Jobs, K., Wawrzyniak, A., Majder-\u0141opatka, M., and Kalicki, B. (2020). Effect of Vitamin D Treatment on Dynamics of Stones Formation in the Urinary Tract and Bone Density in Children with Idiopathic Hypercalciuria. Nutrients, 12.","DOI":"10.3390\/nu12092521"},{"key":"ref_59","first-page":"22-0300","article-title":"Treating \u2019osteoporosis\u2019: A near miss in an unusual case of FGF-23-mediated hypophosphataemic osteomalacia","volume":"2022","author":"Lin","year":"2022","journal-title":"Endocrinol. Diabetes Metab. Case Rep."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Song, S., Cai, X., Hu, J., Zhu, Q., Shen, D., Heizhati, M., Yang, W., Li, N., and Hong, J. (2024). Correlation between plasma aldosterone concentration and bone mineral density in middle-aged and elderly hypertensive patients: Potential impact on osteoporosis and future fracture risk. Front. Endocrinol., 15.","DOI":"10.3389\/fendo.2024.1373862"},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Song, S., Cai, X., Hu, J., Zhu, Q., Shen, D., Ma, H., Zhang, Y., Ma, R., Zhou, P., and Yang, W. (2025). Serum Uric Acid and Bone Health in Middle-Aged and Elderly Hypertensive Patients: A Potential U-Shaped Association and Implications for Future Fracture Risk. Metabolites, 15.","DOI":"10.3390\/metabo15010015"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1007\/s00198-023-06817-4","article-title":"Update on the clinical use of trabecular bone score (TBS) in the management of osteoporosis: Results of an expert group meeting organized by the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO), and the International Osteoporosis Foundation (IOF) under the auspices of WHO Collaborating Center for Epidemiology of Musculoskeletal Health and Aging","volume":"34","author":"Shevroja","year":"2023","journal-title":"Osteoporos. Int."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"446","DOI":"10.2967\/jnumed.120.256180","article-title":"Bone Mineral Density: Clinical Relevance and Quantitative Assessment","volume":"62","author":"Haseltine","year":"2021","journal-title":"J. Nucl. Med."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s00774-026-01697-0","article-title":"Autoimmune osteomalacia: A novel FGF23-related hypophosphatemic osteomalacia","volume":"44","author":"Hoshino","year":"2026","journal-title":"J. Bone Miner. Metab."},{"key":"ref_65","first-page":"e53280","article-title":"Delayed Irreversible Fanconi Syndrome Associated with Vertebral Fracture After Tenofovir Discontinuation","volume":"16","author":"Qorban","year":"2024","journal-title":"Cureus"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"101693","DOI":"10.1016\/j.ando.2025.101693","article-title":"Chapter 4: Differential diagnosis of primary hyperparathyroidism","volume":"86","author":"Houillier","year":"2025","journal-title":"Ann. Endocrinol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.therap.2023.07.007","article-title":"Drug-related hypophosphatemia: Descriptive study and case\/non-case analysis of the French national pharmacovigilance database","volume":"79","author":"Thillard","year":"2024","journal-title":"Therapie"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1002\/jbmr.4550","article-title":"Identification of ENPP1 Haploinsufficiency in Patients with Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis","volume":"37","author":"Kato","year":"2022","journal-title":"J. Bone Miner. Res."},{"key":"ref_69","first-page":"e54712","article-title":"Phosphaturic Tumor-Induced Osteomalacia","volume":"16","author":"Ashouri","year":"2024","journal-title":"Cureus"},{"key":"ref_70","doi-asserted-by":"crossref","unstructured":"Xu, T., Tao, X., Zhang, Z., and Yue, H. (2022). Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia. Front. Endocrinol., 13.","DOI":"10.3389\/fendo.2022.956646"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/s41574-022-00662-x","article-title":"Interdisciplinary management of FGF23-related phosphate wasting syndromes: A Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia","volume":"18","author":"Trombetti","year":"2022","journal-title":"Nat. Rev. Endocrinol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1007\/s00198-023-06686-x","article-title":"Impact of urinary calcium excretion on kidney, bone, and cardiovascular systems in patients with bone biopsy proven osteoporosis: A longitudinal long-term follow-up study","volume":"34","author":"Abdalbary","year":"2023","journal-title":"Osteoporos. Int."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"59","DOI":"10.17925\/EE.2021.17.1.59","article-title":"Renal Tubular Acidosis Manifesting as Severe Metabolic Bone Disease","volume":"17","author":"Boro","year":"2021","journal-title":"touchREV Endocrinol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"e234929","DOI":"10.1136\/bcr-2020-234929","article-title":"Primary Sjogren\u2019s syndrome manifesting with distal renal tubular acidosis and severe metabolic bone disease","volume":"13","author":"Jain","year":"2020","journal-title":"BMJ Case Rep."},{"key":"ref_75","first-page":"e82206","article-title":"Sjogren\u2019s Syndrome Presenting with Proximal Myopathy Due to Osteomalacia Complicating Renal Tubular Acidosis: A Case Report","volume":"17","author":"Islam","year":"2025","journal-title":"Cureus"},{"key":"ref_76","first-page":"e18373","article-title":"Osteoporosis Complicating Renal Tubular Acidosis in Association with Sjogren\u2019s Syndrome","volume":"13","author":"Furqan","year":"2021","journal-title":"Cureus"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"11","DOI":"10.3892\/mi.2022.36","article-title":"Type 2 renal tubular acidosis presenting with joint pain: A case report and literature review","volume":"2","author":"Evren","year":"2022","journal-title":"Med. Int."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1093\/qjmed\/hcaf113","article-title":"Bouquet of flower calcification in renal tubular acidosis","volume":"118","author":"Giri","year":"2025","journal-title":"QJM"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"e260027","DOI":"10.1136\/bcr-2024-260027","article-title":"Unusual presentation of Wilson\u2019s disease as proximal renal tubular acidosis with isolated phosphaturia","volume":"17","author":"Matti","year":"2024","journal-title":"BMJ Case Rep."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1053\/j.ajkd.2021.12.015","article-title":"Zoledronic Acid-Associated Fanconi Syndrome in Patients with Cancer","volume":"80","author":"Mount","year":"2022","journal-title":"Am. J. Kidney Dis."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"32","DOI":"10.13107\/jocr.2025.v15.i12.6444","article-title":"Adult-Onset Fanconi Syndrome Presenting as Stress Fractures: A Case Report","volume":"15","author":"Gupta","year":"2025","journal-title":"J. Orthop. Case Rep."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s00198-025-07810-9","article-title":"Cadmium toxicity-related metabolic bone disease: A clinical conundrum of five cases","volume":"37","author":"Giri","year":"2025","journal-title":"Osteoporos. Int."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/12\/1898\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T09:42:15Z","timestamp":1781862135000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/16\/12\/1898"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,18]]},"references-count":82,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["diagnostics16121898"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics16121898","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,18]]}}}