RESUMO
Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes mutations in exons 1, 4, 5, 7, 10, 13. Our syndrome could be a new syndrome in between SH, CKD, and hereditary bone dystrophies. We could not find chromosomal abnormalities in cytogenetics and on Ca SR gene exons 2 and 3. Interestingly, we did find promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4. We finally thought that those catastrophic bone diseases were severe SH and its late treatments due to monetary deficiencies and iatrogenic mistreatments not started as early as possible. This was a sine qua non humanity task. Those brand new striking GNAS1 genes missense mutations have to be considered from now on for the genesis of SS.
Assuntos
Ossos Faciais/patologia , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Hiperparatireoidismo Secundário/genética , Falência Renal Crônica/complicações , Mutação de Sentido Incorreto/genética , Receptores de Detecção de Cálcio/genética , Cromograninas , Éxons/genética , Humanos , Hiperparatireoidismo Secundário/patologia , Hiperparatireoidismo Secundário/fisiopatologia , SíndromeRESUMO
Avascular necrosis of bone is a well-described complication of cancer chemotherapy containing corticosteroids and has been observed in lymphomas and acute lymphoblastic leukemia (ALL). This study reports the case of a young male patient in whom avascular necrosis of right femur head was the presenting feature of acute lymphoblastic leukemia. The temporal association in this instance implicates a pathophysiologic relationship between the development of ALL and necrosis.