{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:11:31Z","timestamp":1790964691426,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) is a rare tubulopathy resulting from mutations in the\n                    <jats:italic>CLDN16<\/jats:italic>\n                    and\n                    <jats:italic>CLDN19<\/jats:italic>\n                    genes. The affected individuals commonly present with polyuria, polydipsia, excessive urinary magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, nephrolithiasis, recurrent urinary tract infections, and renal dysfunction. We herein report a 22\u2010year\u2010old male born to consanguineous parents presenting with recurrent nephrolithiasis since early childhood. He gave a previous history of muscle cramps, tetany, and seizures on multiple occasions with reported hypocalcemia and hypomagnesemia. He had no ocular symptoms or any history of salt wasting. His family history is noncontributory. Laboratory parameters demonstrated persistent hypomagnesemia, hypercalciuria, secondary hyperparathyroidism, and mild renal impairment. Ultrasound and plain X\u2010ray kidney\u2013ureter\u2013bladder (KUB) region illustrated bilateral nephrolithiasis and nephrocalcinosis. Genetic study identified a homozygous missense mutation in\n                    <jats:italic>CLDN16<\/jats:italic>\n                    which correlates with the patient's clinical features. Mild renal dysfunction indicates that this patient may retain partial\n                    <jats:italic>CLDN16<\/jats:italic>\n                    function. Treatment focused on high fluid intake with dietary changes along with potassium citrate and magnesium supplementation. FHHNC may go unnoticed during the evaluation of recurrent renal stones. Hence, this case report highlights the need for careful assessment of patients presenting with recurrent nephrolithiasis manifesting from an early age. Early distinction of the disease from other inherited tubulopathies may decelerate the progression of end\u2010stage renal disease (ESRD) in FHHNC patients.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.71530","type":"journal-article","created":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T07:53:20Z","timestamp":1764057200000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Recurrent Nephrolithiasis and Beyond: The Long Diagnostic Odyssey of a Case of\n                    <scp>CLDN16<\/scp>\n                    Mutation"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2086-9661","authenticated-orcid":false,"given":"Abdullah Al Noman","family":"Bhuiyan","sequence":"first","affiliation":[{"name":"Department of Endocrinology Bangabandhu Sheikh Mujib Medical University (BSMMU)  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3509-1769","authenticated-orcid":false,"given":"Nazia","family":"Akter","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Bangabandhu Sheikh Mujib Medical University (BSMMU)  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0863-0619","authenticated-orcid":false,"given":"Tahniyah","family":"Haq","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Bangabandhu Sheikh Mujib Medical University (BSMMU)  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7537-0933","authenticated-orcid":false,"given":"Md.","family":"Fariduddin","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Bangabandhu Sheikh Mujib Medical University (BSMMU)  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7749-3542","authenticated-orcid":false,"given":"Shahjada","family":"Selim","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Bangabandhu Sheikh Mujib Medical University (BSMMU)  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,24]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfv081"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00019.2012"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1995.199"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2007060709"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V1291872"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/508617"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1011568"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010021\u201004968\u20102"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026\u20100495(72)90025\u2010X"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00849255"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V11101937"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.04480413"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.285.5424.103"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijn.IJN_323_17"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfu374"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1976.03630040064013"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223\u2010021\u201000928\u2010y"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882\u2010018\u20100979\u20101"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.25259\/ijn_531_23"}],"container-title":["Clinical 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