{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T22:59:38Z","timestamp":1789253978029,"version":"build-2803163510"},"reference-count":25,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0550_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of <jats:italic>CYP27B1<\/jats:italic>. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing. This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0550_abs_002\">\n                  <jats:title>Methodology<\/jats:title>\n                  <jats:p>Retrospective review of all cases of VDDR1A due to <jats:italic>CYP27B1<\/jats:italic> mutation over a period of two years presenting in Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0550_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Six cases of VDDR1A (4 males) were identified. Mean age of clinical manifestation was 14 (9\u201324) months. Mean age of presentation to endocrine department was 5.5 (1.5\u201311.8) years. Growth failure and bony deformities were the most common presentation (n=6), followed by repeated diarrheas and abdominal distension (n=3) and recurrent fractures (n=1). All cases shared same biochemical profile of low\/normal calcium, hypophosphatemia, raised alkaline phosphatase, raised PTH, normal\/high 25(OH)D and tubular reabsorption of phosphate (TRP) &lt;85%. Patients treated with calcitriol showed rapid healing as compared to those treated with 1-alfacalcidol.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0550_abs_004\">\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0550","type":"journal-article","created":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T15:50:33Z","timestamp":1671205833000},"source":"Crossref","is-referenced-by-count":2,"title":["Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by <i>CYP27B1<\/i> mutation in resource limited countries"],"prefix":"10.1515","volume":"0","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2397-4698","authenticated-orcid":false,"given":"Sommayya","family":"Aftab","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes , University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"},{"name":"Paediatric Endocrinology , Hameed Lateef Hospital , Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7950-4863","authenticated-orcid":false,"given":"Sabeen Abid","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Shifa College of Medicine , Shifa Tameer-r-Millat University , Islamabad , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Munir Iqbal","family":"Malik","sequence":"additional","affiliation":[{"name":"Department of Paediatrics , Shifa College of Medicine, Shifa Tameer-e-Millat University , Islamabad , Pakistan"},{"name":"Consultant Paediatric Gastroenterologist , Shifa International Hospital , Islamabad , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Imran","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology , University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Nadeem","family":"Anjum","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Hepatology and Nutrition , University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjum","family":"Saeed","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Hepatology and Nutrition , University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abid Ali","family":"Qureshi","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology , University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huma Arshad","family":"Cheema","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Hepatology and Nutrition , University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2022,12,19]]},"reference":[{"key":"2022121615502766063_j_jpem-2022-0550_ref_001","doi-asserted-by":"crossref","unstructured":"Yan, Y, Calikoglu, AS, Jain, N. 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