{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T18:06:17Z","timestamp":1791050777106,"version":"4.1.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"Supplement_5","license":[{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and generalized arterial calcification of infancy (GACI) occur secondary to biallelic ectonucleotide pyrophosphate\/phosphodiesterase 1 (ENPP1) loss-of-function pathogenic variants. GACI is a life-threatening condition, often presenting in the neonatal period with heart failure and hypertension, caused by calcification of the media in large- and medium-sized arteries. ARHR2 typically manifests later in life. Children with ARHR2 commonly exhibit short stature, rachitic skeletal changes, progressive deformities of the lower limbs, skeletal fragility and bone\/muscle pain. We present six cases of homozygous pathogenic variants in the ENPP1 gene causing ARHR2 and\/or GACI.<\/jats:p>\n                  <jats:p>Case 1: Presented with lower limb deformities and pain with radiological evidence of rickets. Subsequent investigations displayed aortic and pulmonary arterial calcification.<\/jats:p>\n                  <jats:p>Case 2: Presented with lower limb deformities and knee pain. Confirmatory testing was undertaken following her brother\u2019s (Case 1) diagnosis.<\/jats:p>\n                  <jats:p>Case 3: The diagnosis was made antenatally. Bisphosphonate treatment was instituted in both the pre- and post-natal periods due to the presence of extensive arterial calcifications. Rickets were noted by two years of age.<\/jats:p>\n                  <jats:p>Case 4: Presented with lower limb deformities and pain. There is neither any current evidence of arterial calcification nor hypertension.<\/jats:p>\n                  <jats:p>Case 5: Presented at 3 mo of age in cardiogenic shock with widespread calcification of large and medium-sized arteries. Bisphosphonate treatment was instituted.<\/jats:p>\n                  <jats:p>Case 6: Presented at 2\u00a0wk of age with right shoulder discomfort, with evidence of glenohumeral joint calcification. Further imaging revealed aortic, mediastinal, sternoclavicular joint and vertebral spinous process calcification.<\/jats:p>\n                  <jats:p>Case 1 and 2 were also found to have a heterozygous pathogenic ALPL variant consistent with hypophosphatasia.<\/jats:p>\n                  <jats:p>Clinical features, biochemistry, imaging and genetic analyses assist in the diagnosis of ARHR2 and GACI. Conventional therapy, oral phosphate and calcitriol for ARHR2 and bisphosphonates for GACI, have been utilized for many years. ENPP1 replacement treatment remains an exciting prospect for future management of ARHR2 and GACI secondary to loss of function of ENPP1.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziae174","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T07:14:55Z","timestamp":1736147695000},"page":"v47-v57","source":"Crossref","is-referenced-by-count":2,"title":["Six cases of\n                    <i>ENPP1<\/i>\n                    pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4957-1483","authenticated-orcid":false,"given":"Lucy","family":"Collins","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetes, Royal Children\u2019s Hospital% , 50 Flemington Road, Parkville, Melbourne, VIC 3052 ,","place":["Australia"]},{"name":"Department of Medicine, School of Clinical Sciences, Monash University% , 246 Clayton Road, Clayton, Melbourne, VIC 3168 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2406-8419","authenticated-orcid":false,"given":"Jessica","family":"Sandy","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children\u2019s Hospital at Westmead% , Hospital Road, Westmead, Sydney, NSW 2145 ,","place":["Australia"]},{"name":"Faculty of Medicine and Health, University of Sydney% , Science Road, Camperdown, Sydney, NSW 2050 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Ly","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children\u2019s Hospital at Westmead% , Hospital Road, Westmead, Sydney, NSW 2145 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate E","family":"Lomax","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Perth Children\u2019s Hospital% , 15 Hospital Avenue, Nedlands, Perth, WA 6009 ,","place":["Australia"]},{"name":"Telethon Kids Institute, The University of Western Australia% , 15 Hospital Avenue, Nedlands, Perth, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Black","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Perth Children\u2019s Hospital% , 15 Hospital Avenue, Nedlands, Perth, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"McKenzie","sequence":"additional","affiliation":[{"name":"Genetic Health Western Australia, King Edward Memorial Hospital% , 374 Bagot Road, Subiaco, Perth, WA 6008 ,","place":["Australia"]},{"name":"Medical School, Paediatrics, University of Western Australia% , 35 Stirling Highway, Crawley, Perth, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eadaoin","family":"Hayes","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Perth Children\u2019s Hospital% , 15 Hospital Avenue, Nedlands, Perth, WA 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathryn","family":"Poulton","sequence":"additional","affiliation":[{"name":"Genetic Health Western Australia, King Edward Memorial Hospital% , 374 Bagot Road, Subiaco, Perth, WA 6008 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Jefferies","sequence":"additional","affiliation":[{"name":"Te Whatu Ora, Starship Children\u2019s Health% , 2 Park Road, Grafton, Auckland, 1023 ,","place":["New Zealand"]},{"name":"Department of Paediatrics and Liggins Institute, University of Auckland% , 34 Princes Street, Auckland Central, Auckland, 1010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Hunter","sequence":"additional","affiliation":[{"name":"Te Whatu Ora, Nelson Marlborough% , Waimea Road, Nelson South, Nelson, 7010 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Simm","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Royal Children\u2019s Hospital% , 50 Flemington Road, Parkville, Melbourne, VIC 3052 ,","place":["Australia"]},{"name":"Department of Paediatrics, University of Melbourne% , Parkville, Melbourne, VIC 3052 ,","place":["Australia"]},{"name":"Centre for Hormone Research, Murdoch Children\u2019s Research Institute% , 50 Flemington Road, Melbourne, VIC 3052 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Rodda","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Melbourne% , Parkville, Melbourne, VIC 3052 ,","place":["Australia"]},{"name":"Australian Institute for Musculoskeletal Research% , Level 3-4 WCHRE, 176 Furlong Road, St Albans, Melbourne, VIC 3021 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Biggin","sequence":"additional","affiliation":[{"name":"Institute of Endocrinology and Diabetes, The Children\u2019s Hospital at Westmead% , Hospital Road, Westmead, Sydney, NSW 2145 ,","place":["Australia"]},{"name":"Faculty of Medicine and Health, University of Sydney% , Science Road, Camperdown, Sydney, NSW 2050 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Munns","sequence":"additional","affiliation":[{"name":"Child Health Research Centre, Faculty of Medicine, The University of Queensland% , 20 Weightman Street, Herston, Brisbane, QLD 4006 ,","place":["Australia"]},{"name":"Department of Endocrinology and 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