Muhammad I Khan, Tanvi Jain, Muhammad M Abid, Samra Israr, Muhammad H Khan
{"title":"一例罕见的家族性低钙高钙血症并发胰腺炎。","authors":"Muhammad I Khan, Tanvi Jain, Muhammad M Abid, Samra Israr, Muhammad H Khan","doi":"10.55729/2000-9666.1497","DOIUrl":null,"url":null,"abstract":"<p><p>Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition caused by mutations in the calcium-sensing receptor gene (CASR), leading to asymptomatic hypercalcemia. Here, we report a case of hypercalcemia in a patient with acute pancreatitis, subsequently diagnosed with FHH. A 41-year-old male presented with abdominal pain and elevated pancreatic enzymes. Imaging revealed changes consistent with acute pancreatitis. Surprisingly, serum calcium was elevated, which is uncommon in acute pancreatitis. Further work-up demonstrated normal parathyroid hormone (PTH), PTH-related peptide (PTHrp), and vitamin D levels. A 24-h urinary calcium excretion of 24 mg/24 h and a calcium to creatinine clearance ratio (CCCR) of 0.002 confirmed the diagnosis of FHH. This condition is typically asymptomatic, with few complications, and is managed conservatively with patient education and genetic counselling.</p>","PeriodicalId":15460,"journal":{"name":"Journal of Community Hospital Internal Medicine Perspectives","volume":"15 4","pages":"66-68"},"PeriodicalIF":0.6000,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12315876/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Rare Case of Familial Hypocalciuric Hypercalcemia in Patient With Pancreatitis.\",\"authors\":\"Muhammad I Khan, Tanvi Jain, Muhammad M Abid, Samra Israr, Muhammad H Khan\",\"doi\":\"10.55729/2000-9666.1497\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition caused by mutations in the calcium-sensing receptor gene (CASR), leading to asymptomatic hypercalcemia. Here, we report a case of hypercalcemia in a patient with acute pancreatitis, subsequently diagnosed with FHH. A 41-year-old male presented with abdominal pain and elevated pancreatic enzymes. Imaging revealed changes consistent with acute pancreatitis. Surprisingly, serum calcium was elevated, which is uncommon in acute pancreatitis. Further work-up demonstrated normal parathyroid hormone (PTH), PTH-related peptide (PTHrp), and vitamin D levels. A 24-h urinary calcium excretion of 24 mg/24 h and a calcium to creatinine clearance ratio (CCCR) of 0.002 confirmed the diagnosis of FHH. This condition is typically asymptomatic, with few complications, and is managed conservatively with patient education and genetic counselling.</p>\",\"PeriodicalId\":15460,\"journal\":{\"name\":\"Journal of Community Hospital Internal Medicine Perspectives\",\"volume\":\"15 4\",\"pages\":\"66-68\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-07-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12315876/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Community Hospital Internal Medicine Perspectives\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.55729/2000-9666.1497\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Community Hospital Internal Medicine Perspectives","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.55729/2000-9666.1497","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
A Rare Case of Familial Hypocalciuric Hypercalcemia in Patient With Pancreatitis.
Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant condition caused by mutations in the calcium-sensing receptor gene (CASR), leading to asymptomatic hypercalcemia. Here, we report a case of hypercalcemia in a patient with acute pancreatitis, subsequently diagnosed with FHH. A 41-year-old male presented with abdominal pain and elevated pancreatic enzymes. Imaging revealed changes consistent with acute pancreatitis. Surprisingly, serum calcium was elevated, which is uncommon in acute pancreatitis. Further work-up demonstrated normal parathyroid hormone (PTH), PTH-related peptide (PTHrp), and vitamin D levels. A 24-h urinary calcium excretion of 24 mg/24 h and a calcium to creatinine clearance ratio (CCCR) of 0.002 confirmed the diagnosis of FHH. This condition is typically asymptomatic, with few complications, and is managed conservatively with patient education and genetic counselling.
期刊介绍：
JCHIMP provides: up-to-date information in the field of Internal Medicine to community hospital medical professionals a platform for clinical faculty, residents, and medical students to publish research relevant to community hospital programs. Manuscripts that explore aspects of medicine at community hospitals welcome, including but not limited to: the best practices of community academic programs community hospital-based research opinion and insight from community hospital leadership and faculty the scholarly work of residents and medical students affiliated with community hospitals.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
