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Blue Sclerae

Blue Sclerae JAMA CLINICAL CHALLENGE CLINICIAN’S CORNER Figure. Patient at presentation with blue sclerae. Javier Munoz, MD Amr Hanbali, MD What Would You Do Next? A. Obtain a bone biopsy. 60-YEAR-OLD MAN WITH A HISTORY OF MULTIPLE FRACTURES AFTER B. Obtain a bone scan. minor trauma presents for evaluation of anemia with a hemoglobin C. Offer genetic counseling, includ- A level of approximately 9 g/dL. Other medical problems include ing evaluation of family members. chronic hypertension and worsening chronic kidney disease (CKD). His fam- D. Send serum sample to look for ily history is remarkable for short stature and dental problems. Physical COL1 and COL2 mutations. examination reveals a short male with blue sclerae (FIGURE). Iron levels are normal and ferritin is elevated. A kidney biopsy performed for renal dysfunc- See www.jama.com for online Clinical tion progressing more rapidly than expected reveals glomerulosclerosis com- Challenge. patible with hypertensive nephropathy. A bone marrow biopsy is negative for malignancy and shows elevated iron levels. Author Affiliations: Department of Hematology/Oncology, Henry Ford Hospital, Detroit, Michigan. Corresponding Author: Javier Munoz, MD, Department of Hematology/Oncology, Henry Ford Hospital, 2799 W Grand Blvd, Detroit, MI 48202 (javier.munoz@me .com). JAMA Clinical Challenge Section Editor: Huan J. Chang, MD, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Blue Sclerae

Munoz, Javier; Hanbali, Amr
JAMA , Volume 307 (12) – Mar 28, 2012
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References (9)

Publisher
American Medical Association
Copyright
Copyright 2012 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2012.363
pmid
22453572
Publisher site
See Article on Publisher Site

Abstract

JAMA CLINICAL CHALLENGE CLINICIAN’S CORNER Figure. Patient at presentation with blue sclerae. Javier Munoz, MD Amr Hanbali, MD What Would You Do Next? A. Obtain a bone biopsy. 60-YEAR-OLD MAN WITH A HISTORY OF MULTIPLE FRACTURES AFTER B. Obtain a bone scan. minor trauma presents for evaluation of anemia with a hemoglobin C. Offer genetic counseling, includ- A level of approximately 9 g/dL. Other medical problems include ing evaluation of family members. chronic hypertension and worsening chronic kidney disease (CKD). His fam- D. Send serum sample to look for ily history is remarkable for short stature and dental problems. Physical COL1 and COL2 mutations. examination reveals a short male with blue sclerae (FIGURE). Iron levels are normal and ferritin is elevated. A kidney biopsy performed for renal dysfunc- See www.jama.com for online Clinical tion progressing more rapidly than expected reveals glomerulosclerosis com- Challenge. patible with hypertensive nephropathy. A bone marrow biopsy is negative for malignancy and shows elevated iron levels. Author Affiliations: Department of Hematology/Oncology, Henry Ford Hospital, Detroit, Michigan. Corresponding Author: Javier Munoz, MD, Department of Hematology/Oncology, Henry Ford Hospital, 2799 W Grand Blvd, Detroit, MI 48202 (javier.munoz@me .com). JAMA Clinical Challenge Section Editor: Huan J. Chang, MD,

Journal

JAMA – American Medical Association

Published: Mar 28, 2012

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