Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene are known to cause familial hypocalciuric hypercalcemia (FHH), usually a benign form of hypercalcemia without symptoms of a disrupted calcium homeostasis. FHH can be mistaken for the more common primary hyperparathyroidism (PHPT), for which surgical treatment may be needed. We describe a case of a 36-year-old woman with hypercalcemia and elevated PTH, initially suspected of having PHPT. Sequencing of the CaSR-gene revealed a mutation in nucleotide 437, changing the amino acid in position 146 from Glycine to Aspartate. The mutation was previously undescribed in the literature, but a very low calcium:creatinine clearance ratio supported the diagnosis FHH. A few years later, the patient's two daughters were tested and the association between mutation and hypercalcemia could be confirmed. The patient was gastric bypass-operated and therefore, due to malabsorption and increased risk of fracture, was in need of adequate calcium supplementation. The chronically elevated calcium levels challenged medical followup, as calcium sufficiency could not be monitored in a traditional manner. Eventually the patient developed elevated alkaline phosphatase, a further increased PTH and a decreased DXA T-score indicating calcium deficiency and bone resorption. As a supplement, all CaSR-mutations found at our hospital, 2005-2018.
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PMID:A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory. 3089 64

Primary biliary cholangitis is a slowly progressive immune-mediated cholestatic disease that causes a destruction of the intrahepatic bile ducts and may lead to cirrhosis of the liver, end-stage liver disease, and the need for liver transplantation. The disease is among the most common reasons why adults require liver transplantation. The primary signs of the disease include the presence of antimitochondrial and antinuclear antibodies, elevated alkaline phosphatase, hyperbilirubinemia, hypercholesterolemia, and histologic features, such as intense inflammation with a florid duct lesion and hepatic fibrosis. The patient's quality of life is impacted by fatigue, pruritus, malabsorption syndrome, sicca syndrome, osteoporosis, and challenges coping with chronic illness. Advanced practice registered nurses need to understand the pathophysiology, clinical presentation, diagnostic approaches, disease and symptom management, and priority nursing assessment and care in patients with this rare disease to differentiate it from primary sclerosing cholangitis, autoimmune hepatitis, obstructed bile duct lesions, drug-induced cholestasis, cholestasis in pregnancy, cholangiocarcinoma, hepatic malignancy, and peptic ulcer disease.
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PMID:A Clinical Review of Primary Biliary Cholangitis. 3225 Dec 26


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