Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.

A fatigued 8-year-old boy was found to have sideroblastic anaemia (haemoglobin 7.8 g/dL) which over time became transfusion dependent. Subtle neurological dysfunction, initially manifesting as mild spastic diplegia, was slowly progressive and ultimately led to wheelchair dependence. Elevated plasma lactate and urinary 3-methylglutaconate led to a muscle biopsy which confirmed partial complex IV deficiency. PCR in leucocytes and muscle was negative for mitochondrial DNA (mtDNA) deletions. Faltering growth prompted an insulin tolerance test which confirmed growth hormone sufficiency and adrenal insufficiency. Plasma renin was elevated and adrenal androgens were low, suggesting primary adrenal insufficiency. Glucocorticoid and mineralocorticoid replacement therapy was initiated. A renal tubular Fanconi syndrome and diabetes mellitus developed subsequently. Sideroblastic anaemia and primary adrenal insufficiency, both individually and collectively, are associated with mtDNA deletion; however, absence of the same does not exclude the possibility that sideroblastic anaemia and primary adrenal insufficiency are of mitochondrial origin.

Presencia de las especies reactivas de oxígeno en la diabetes autoinmune del adulto

Se ha comprobado en los últimos años que las especies reactivas de oxígeno (ERO) participan en la destrucción de las células beta pancreáticas, lo cual influye en la diabetes mellitus (DM). La diabetes autoinmune del adulto (LADA) se manifiesta con una mezcla de características de la DM tipo I y la DM tipo 11.Se realizó un estudio de las variables indicadoras del estrés oxidativo en una población de 56 sujetos distribuidos de la siguiente forma, 32 individuos con LADA y 24 sujetos aparentemente sanos, grupo control para lo cual se determinaron las enzimas superóxido dismutasa (SOD) y catalasa (CAT), así como los niveles de malonildialdehído (MDA) y fructosamina obteniéndose como resultado disminuída la actividad de la SOD y aumentada la actividad de la CAT y los niveles de MDA en pacientes con LADA con respecto al grupo control.Se encontró en los pacientes con LADA una correlación entre los niveles de fructosamina y MDA y entre la actividad de la SOD y MDA (p î 0,05 y p î 0,01 respectivamente) sugiriendo que en estos diabéticos autoinmunes la peroxidación lipídica guarda una estrecha relación con los productos de glicosilación avanzada y la generación de radicales aniones superoxido y peróxido de hidrógeno. Estos resultados demuestran que en la diabetes autoinmunes del adulto hay presencia de estrés oxidativo. (AU)

Relation with preoperative fructosamine and autonomic nerve function and blood pressure during anesthesia in diabetics: a retrospective study.

Many diabetics may have a high risk involving the cardiovascular system. In an attempt to predict the intraoperative risks of diabetics during anesthesia, we evaluated retrospectively the relationship among the biochemical assay or autonomic nerve function obtained as parts of the preoperative examination, and the blood pressure changes relating to the stimulation of intubation and extubation for anesthesia. In 40 diabetic surgical patients examined the biochemical assay (HbA1c, fructosamine level and blood glucose level) beforehand, the autonomic nerve function was quantified preoperatively by analysis of ECG R-R variability recorded in supine and subsequent standing position using an HRV analyzer, and some parameters of autonomic nerve function especially responsive sympathetic nerve activities were obtained. We assessed the correlation with systolic blood pressure changes in these cases at intubation for general anesthesia comparing to similar conditioned 40 non-diabetics. A diabetics with low vagal activity became larger systolic blood pressure afterdrop at tracheal intubation for anesthesia (r=0.513, p<0.001). Otherwise the blood pressure afterdrop at extubation became larger in a non-diabetics with high sympathetic activity (r=0.502, p<0.001). The preoperative fructosamine concentration in diabetics correlated positively with the responsive sympathetic nerve irritability index; "mRR(sup)-RRmin(std)" (r=0.432, p<0.05) and the responsive sympathetic nerve excitability index; "mRR(sup-std)" (r=0.448, p<0.05). However HbA1c had no correlation with these parameters of autonomic nerve function and blood pressure rise at tracheal intubation. Because of above correlation with blood pressure rise at intubation for anesthesia induction, the preoperative fructosamine examination and the responsive sympathetic nerve function test must be useful preoperative examination for detection of the unexpected heart events of diabetic patients during operation.