{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T14:57:39Z","timestamp":1754146659175,"version":"3.41.2"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0611_abs_002\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Vitamin D dependent rickets type 2A (VDD2A) is a rare autosomal recessive disorder due to mutation in vitamin D receptor (<jats:italic>VDR<\/jats:italic>) gene leading to hypocalcemia, secondary hyperparathyroidism and signs of rickets. We are reporting case series of two siblings with VDDR2A who were managed in a non-conventional manner (oral calcium and oral vitamin D) in a tertiary care hospital of resource limited country.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0611_abs_003\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Two male siblings presented at the age of 10\u00a0years (case 1) and 11.5\u00a0years (case 2) with the complaints of short stature and walking difficulty since 4 and 1.5\u00a0year of age respectively. They were born to consanguineous parents with a history of two maternal cousins having the same complaints. The investigations showed frank rickets findings on imaging with biochemical evidence of hypocalcemia, hypophosphatemia, raised levels of alkaline phosphatase and raised parathyroid hormone with normal 25-OH vitamin\u00a0D levels and raised 1,25(OH)<jats:sub>2<\/jats:sub>D<jats:sub>3<\/jats:sub> levels confirming the diagnosis of calcipenic rickets. The whole exome sequencing (WES) of case 1 (younger sibling) showed that he was carrying a novel homozygous variant in <jats:italic>VDR<\/jats:italic> gene c.1354C&gt;T, p(Arg452Cys). They both are being managed on high doses of oral calcium supplements and activated form of vitamin\u00a0D.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0611_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>VDDR2A can present with or without alopecia.It can be managed with high doses of oral calcium and vitamin D supplements in resource limited areas.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0611","type":"journal-article","created":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T06:00:11Z","timestamp":1744437611000},"page":"761-766","source":"Crossref","is-referenced-by-count":1,"title":["Vitamin D dependent rickets type 2A: a case series of two siblings with novel mutation in vitamin D receptor gene responded to high dose oral calcium and calcitriol"],"prefix":"10.1515","volume":"38","author":[{"given":"Noor-ul-ain","family":"Mehak","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes , 66867 University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2397-4698","authenticated-orcid":false,"given":"Sommayya","family":"Aftab","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology and Diabetes , 66867 University of Child Health Sciences, The Children\u2019s Hospital , Lahore , Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]},{"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":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,4,14]]},"reference":[{"key":"2025071812031897220_j_jpem-2024-0611_ref_001","doi-asserted-by":"crossref","unstructured":"Levine, MA. Diagnosis and management of vitamin D dependent rickets. Front Pediatr 2020;8:315. https:\/\/doi.org\/10.3389\/fped.2020.00315.","DOI":"10.3389\/fped.2020.00315"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_002","doi-asserted-by":"crossref","unstructured":"Siddiqee, MH, Bhattacharjee, B, Siddiqi, UR, MeshbahurRahman, M. High prevalence of vitamin D deficiency among South Asian adults: a systematic review and meta-analysis. BMC Public Health 2021;21:1\u20138.","DOI":"10.1186\/s12889-021-11888-1"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_003","doi-asserted-by":"crossref","unstructured":"Bin Rubaian, NF, Al-Awam, BS, Aljohani, SM, Almuhaidib, SR. Alopecia with vitamin D-dependent rickets type 2A: a case report. Clin Cosmet Investig Dermatol 2024;31:13\u20136. https:\/\/doi.org\/10.2147\/ccid.s438505.","DOI":"10.2147\/CCID.S438505"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_004","doi-asserted-by":"crossref","unstructured":"Umarji, G, Thelmo, F, Jabbour, SA. 6874 A rare case of hereditary 1,25(OH)2D resistant rickets. JES 2024;8:bvae163\u2013343. https:\/\/doi.org\/10.1210\/jendso\/bvae163.343.","DOI":"10.1210\/jendso\/bvae163.343"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_011","doi-asserted-by":"crossref","unstructured":"Al-Khenaizan, S, Vitale, P. Vitamin D-dependent rickets type II with alopecia: two case reports and a review of the literature. Int J Dermatol 2003;42:682\u20135. https:\/\/doi.org\/10.1046\/j.1365-4362.2003.01816.x.","DOI":"10.1046\/j.1365-4362.2003.01816.x"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_005","doi-asserted-by":"crossref","unstructured":"Malla, KK, Malla, T, Shaw, C, Thapalial, A. Type II vitamin D dependent rickets: a case report. 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Eur J Pediatr 1986;145:389\u201395. https:\/\/doi.org\/10.1007\/bf00439245.","DOI":"10.1007\/BF00439245"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_010","doi-asserted-by":"crossref","unstructured":"Acar, S, Demir, K, Shi, Y. Genetic causes of rickets. J\u00a0Clin Res Pediatr Endocrinol 2017;9:88\u2013105. https:\/\/doi.org\/10.4274\/jcrpe.2017.s008.","DOI":"10.4274\/jcrpe.2017.S008"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_007","doi-asserted-by":"crossref","unstructured":"Gupta, P, Dabas, A, Seth, A, Bhatia, VL, Khadgawat, R, Kumar, P, et al.. Indian Academy of Pediatrics revised (2021) guidelines on prevention and treatment of vitamin D deficiency and rickets. Indian Pediatr 2022;59:142\u201358. https:\/\/doi.org\/10.1007\/s13312-022-2448-y.","DOI":"10.1007\/s13312-022-2448-y"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_008","doi-asserted-by":"crossref","unstructured":"Sunuwar, N, Gautam, S, Twayana, AR, Yadav, SA, Anjum, F, Kandel, K. Hereditary vitamin D-dependent rickets type II: a case report. JNMA 2021;59:597. https:\/\/doi.org\/10.31729\/jnma.6411.","DOI":"10.31729\/jnma.6411"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_012","doi-asserted-by":"crossref","unstructured":"Malloy, PJ, Wang, J, Srivastava, T, Feldman, D. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor. Mol Genet Metab 2010;99:72\u20139. https:\/\/doi.org\/10.1016\/j.ymgme.2009.09.004.","DOI":"10.1016\/j.ymgme.2009.09.004"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_014","unstructured":"Shafeghati, Y, Moumenin, N, Esfahani, T, Reyniers, E, Wuyts, W. Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. Arch Iran Med 2008;11:330\u20134. https:\/\/doi.org\/10.08113\/AIM.0017."},{"key":"2025071812031897220_j_jpem-2024-0611_ref_013","doi-asserted-by":"crossref","unstructured":"Donmez, AS, Turkyilmaz, A, Cayir, A. Genetic forms of calciopenic rickets. Eurasian J Med 2022;54. https:\/\/doi.org\/10.5152\/eurasianjmed.2022.22171.","DOI":"10.5152\/eurasianjmed.2022.22322"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_015","doi-asserted-by":"crossref","unstructured":"Tiosano, D, Hadad, S, Chen, Z, Nemirovsky, A, Gepstein, V, Militianu, D, et al.. Calcium absorption, kinetics, bone density, and bone structure in patients with hereditary vitamin D-resistant rickets. JCEM 2011;96:3701\u20139. https:\/\/doi.org\/10.1210\/jc.2011-1432.","DOI":"10.1210\/jc.2011-1432"},{"key":"2025071812031897220_j_jpem-2024-0611_ref_016","doi-asserted-by":"crossref","unstructured":"Wong, GW, Leung, SS, Law, WY, Cheung, NK, Oppenheimer, SJ. Oral calcium treatment in vitamin D dependent rickets type II. 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