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A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH
المؤلفون المشاركون
Majumdar, Sachin K.
Jacob, Tess
Bale, Allen
Bailey, Allison
Kwon, Jeffrey
Hughes, Terence
Barbieri, Andrea L.
Laskin, William
Cohen, Paul
Carling, Tobias John Eric
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-09-30
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Familial hypocalciuric hypercalcemia (FHH) is considered a relatively benign condition characterized by mild elevations in serum calcium and relatively low urinary calcium excretion.
It results from an elevated set point in serum calcium arising from variants in the calcium-sensing receptor (CaSR) gene but also AP2S1 and GNA11 genes, which encode for adaptor-related protein complex 2 and G11 proteins, respectively.
The manifestations of FHH can vary and sometimes overlap with primary hyperparathyroidism making the diagnosis challenging.
Case Presentations.
We report a mother and daughter with a novel heterozygous variant in the CaSR gene resulting in a serine to leucine substitution at position 147 (S147L) of the CaSR.
Both patients had mild hypercalcemia, relatively low urinary calcium excretion, elevated calcitriol, and low-to-normal intact PTH.
The proband (daughter) presented with symptoms associated with hypercalcemia and was incidentally found to have a bony lesion suspicious for osteitis fibrosa cystica, and she was also diagnosed with sarcoidosis.
Subtotal parathyroidectomy revealed normal-weight parathyroid glands comprised of 50–80% parathyroid epithelial cells, which has been documented as within the spectrum of normal.
Her mother had no symptoms, and no intervention was pursued.
Conclusion.
We report a novel variant in the CaSR associated with FHH in two patients with similar biochemical features yet differing clinical manifestations.
While the relationship of the bony findings and parathyroid histology with this variant remains unclear, these cases enrich our knowledge of CaSR physiology and provide further examples of how varied the manifestations of FHH can be.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Majumdar, Sachin K.& Jacob, Tess& Bale, Allen& Bailey, Allison& Kwon, Jeffrey& Hughes, Terence…[et al.]. 2020. A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147085
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Majumdar, Sachin K.…[et al.]. A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH. Case Reports in Endocrinology No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1147085
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Majumdar, Sachin K.& Jacob, Tess& Bale, Allen& Bailey, Allison& Kwon, Jeffrey& Hughes, Terence…[et al.]. A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147085
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147085
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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