ABSTRACT
Schimke immuno-osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune deficiency and progressive renal disease. Kidney involvement mainly determines the prognosis. The most common renal pathology is focal segmental glomerulosclerosis (FSGS). Medullary nephrocalcinosis refers to the diffuse deposition of calcium salts in renal medulla and has not previously been identified in SIOD. Here we report the first case of a pediatric patient having typical features of SIOD with medullary nephrocalcinosis.
Subject(s)
Arteriosclerosis/complications , Immunologic Deficiency Syndromes/complications , Kidney/pathology , Nephrocalcinosis/complications , Nephrotic Syndrome/complications , Osteochondrodysplasias/complications , Pulmonary Embolism/complications , Antihypertensive Agents/therapeutic use , Arteriosclerosis/diagnosis , Arteriosclerosis/drug therapy , Child , Female , Humans , Immunologic Deficiency Syndromes/diagnosis , Immunologic Deficiency Syndromes/drug therapy , Nephrotic Syndrome/diagnosis , Nephrotic Syndrome/drug therapy , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/drug therapy , Primary Immunodeficiency Diseases , Prognosis , Pulmonary Embolism/diagnosis , Pulmonary Embolism/drug therapyABSTRACT
BACKGROUND: Chronic lymphocytic leukemia (CLL) is the most common type of leukemia among adults in Western populations. CLL has a wide range of clinical presentations and varied outcomes. For CLL, cytogenetic assessment is essential for estimating prognoses and determining the treatment of choice. The fluorescence in situ hybridization (FISH) technique is widely used for genetic assessment due to its high sensitivity. AIM: This study aimed to evaluate the frequencies of deletions of 13q14.3, 17p13.1, 11q22.3, and 13q34 and of trisomy 12 and to observe their effects on survival in 226 Turkish CLL patients using FISH analysis. RESULT AND CONCLUSION: The frequencies of abnormalities were 65.4% for del 13q14.3, 39.8% for del 17p13.1, 19% for del 11q22.3 (del ATM), and 15.9% for trisomy 12. No patients had a 13q34.3 aberration. Our results are partially consistent with literature findings. However, certain conflicts with prior results were observed, particularly with respect to the high prevalence of 17p13.1 deletions and the enhanced survival of patients with such deletions. These inconsistencies may represent population-based differences in the genetic epidemiology of CLL.