Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

02 October 2008

Spontaneous rib fractures in a black woman with familial hypocalciuric hypercalcemia

Reema MohammedBCEF, Marilyn B. BrayBCD, Christian A. KochACDE, Gabriel I. UwaifoABCDEF

Med Sci Monit 2008; 14(10): CS102-106 :: ID: 869397

Abstract

Background
Familial hypocalciuric hypercalcemia (FHH) is a rare but important consideration in the differential diagnosis of hypercalcemia. FHH results from an autosomal dominantly inherited inactivating mutation of the calcium sensing receptor (CaSR) gene and is typically associated with a benign clinical course and normal bone mineral density.
Material and Method
We describe the unusual case of a 57-year old African American woman with spontaneous rib fractures who was found to have FHH due to a novel set of polymorphisms of the CaSR gene. She also had hypertension, esophageal reflux disease treated with proton pump inhibitors, osteopenia by DEXA scanning, and a prior left ankle fracture in the absence of significant trauma. There was no suggestive family history and her only sibling had a normal serum calcium. The patient was evaluated extensively for potential causes of osteoporotic fractures.
Results

Conclusions
It is imperative to screen for FHH using 24-hour urinary calcium and creatinine excretion in subjects with hypercalcemia irrespective of ethnicity and a history of non-traumatic rib fractures. This approach may prevent unnecessary neck exploration for parathyroidectomy which is unwarranted in FHH.

Keywords: Ribs - pathology, Receptors, Calcium-Sensing - genetics, Polymorphism, Genetic, Hypercalcemia - genetics, Fractures, Bone - etiology, Calcium - urine, African Continental Ancestry Group - genetics

Add Comment 0 Comments

Editorial

01 March 2024 : Editorial  

Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-Thalassemia

Dinah V. Parums

DOI: 10.12659/MSM.944204

Med Sci Monit 2024; 30:e944204

0:00

In Press

18 Mar 2024 : Clinical Research  

Sexual Dysfunction in Women After Tibial Fracture: A Retrospective Comparative Study

Med Sci Monit In Press; DOI: 10.12659/MSM.944136  

0:00

21 Feb 2024 : Clinical Research  

Potential Value of HSP90α in Prognosis of Triple-Negative Breast Cancer

Med Sci Monit In Press; DOI: 10.12659/MSM.943049  

22 Feb 2024 : Review article  

Differentiation of Native Vertebral Osteomyelitis: A Comprehensive Review of Imaging Techniques and Future ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943168  

23 Feb 2024 : Clinical Research  

A Study of 60 Patients with Low Back Pain to Compare Outcomes Following Magnetotherapy, Ultrasound, Laser, ...

Med Sci Monit In Press; DOI: 10.12659/MSM.943732  

Most Viewed Current Articles

16 May 2023 : Clinical Research  

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387

0:00

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750