Prevalence and associations of symptomatic renal papillary necrosis in sickle cell anemia patients in South-Eastern Nigeria.

AIM: To assess the prevalence and associations of symptomatic renal papillary necrosis (RPN) in sickle cell anemia patients. PATIENTS AND METHODS: The case notes of homozygous hemoglobin (Hb) S patients diagnosed with RPN were retrospectively assessed. Diagnosis was based on microscopic hematuria and positive ultrasound findings. Their steady state diastolic blood pressure, Hb, leukocyte count, platelet count, serum direct bilirubin, and aspartate transaminase, were obtained by automated analyzers. These were evaluated for any relationship with the occurrence of RPN. RESULTS: Two hundred and twenty patients were assessed aged 6-55 years with a median age of 24 years. The prevalence of symptomatic RPN was found to be 2.3%. RPN was positively associated with the female gender (Chi-square P value 0.001), but not with any other clinical or laboratory variable. However, other predictors of disease severity were positively associated with RPN such as age, diastolic blood pressure 0.180 (P = 0.016), serum aspartate transaminase, serum bilirubin 0.145 (0.027), Hb, and leukocyte count - 0.155 (P = 0.003). CONCLUSION: The prevalence of symptomatic RPN is low in this group of homozygous S patients and occurs more commonly in females. Improvement in care for these patients will reduce these chronic complications.

Frequency and clinical impact of ETV6/RUNX1, AF4-MLL, and BCR/ABL fusion genes on features of acute lymphoblastic leukemia at presentation.

BACKGROUND: Variations in disease presentation and outcome of leukemia treatment has been associated with the presence of certain mutant genes. Three major translocations (ETV6-RUNX1, BCR-ABL, and AF4-MLL) in acute lymphoblastic leukemia (ALL) have been shown to affect treatment outcome. This study is aimed at assessing the relationship between these translocations and the presence of other indicators of disease severity (white cell count, hemoglobin concentration, platelet count, and hematocrit) in ALL. PATIENTS AND METHODS: Forty chemotherapy naïve patients aged between 9 months and 54 years had their marrow samples analyzed for the prevalent mutations. Their clinical and laboratory details on presentation were also obtained. RESULTS: Abnormal genes detected were BCR/ABL1 major transcript in 5 (12.5%), ETV6/RUNX1 in 2 (5.0%), MLL/AF4 none and none of the patients had more than one fusion gene. There was no relationship between the presence of these fusion genes and the clinical and laboratory features of ALL. An association exists between the fusion genes and ethnic origin of the patients (P = 0.005). There is no significant association between the abnormal fusion genes detected and some laboratory features of prognostic importance, which include total white blood cell count (P = 0.416) and FAB subtype (P = 0.576). CONCLUSION: Presence of fusion the genes BCR/ABL1, ETV6/RUNX1, and MLL/AF4 does not have any impact on the clinical and laboratory features of ALL at presentation.