Endocrine Abnormalities in Patients with Fanconi Anemia
نویسندگان
چکیده
منابع مشابه
Endocrine abnormalities in patients with Fanconi anemia.
BACKGROUND Fanconi anemia (FA) is an inherited disorder with chromosomal instability, bone marrow failure, developmental defects, and a predisposition to cancer. Systematic and comprehensive endocrine function data in FA are limited. OBJECTIVE We studied a cohort of FA patients enrolled in the National Cancer Institute's Inherited Bone Marrow Failure Syndrome study. STUDY DESIGN AND PATIENT...
متن کاملHearing and Ear Abnormalities in Fanconi Anemia
In 1927, Guido Fanconi, MD, noticed an association between ear anomalies and FA. In a 1993 review of 370 patients with FA, hearing loss was documented in 11.3% of cases and ear malformations in 14.9%.1 However, detailed ear manifestations in FA have not been well described in the literature. This chapter will describe normal anatomy and function of the ear, types and degree of hearing loss, the...
متن کاملHematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study.
We analyzed data from 388 subjects with Fanconi anemia reported to the International Fanconi Anemia Registry (IFAR). Of those, 332 developed hematologic abnormalities at a median age of 7 years (range, birth to 31 years). Actuarial risk of developing hematopoietic abnormalities was 98% (95% confidence interval, 93% to 99%) by 40 years of age. Common hematologic abnormalities were thrombocytopen...
متن کاملEndocrine phenotype of children and adults with Fanconi anemia.
BACKGROUND Features of Fanconi anemia (FA) are well known, including bone marrow failure, congenital anomalies such as radial anomalies, renal and ear anomalies, tracheo-esophageal fistula, imperforate anus, and elevated risk for cancer. We sought to further characterize the endocrine phenotype in children and adults with FA. PROCEDURE Clinically indicated endocrine evaluation data from 120 p...
متن کاملImmunological Evaluation of Patients with Fanconi Anemia
Fanconi anemia (FA) is a progressive bone marrow failure syndrome with multiple congenital anomalies and predisposition to various malignancies. Immune status of these patients has been investigated in a few studies. In our study we prospectively measured serum immunoglobulin (Ig) levels, and lymphocyte subgroup counts in 25 patients with FA. Median age of the patients was 12.5 years (1.5 – 27)...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2007
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2007-0135