[Frequent airway infections]. / Gehäufte Infekte der Luftwege.

A 44-year-old patient experienced increasing shortness of breath and cough with yellow expectoration. Physical findings of the patient were not remarkable, whereas x-ray chest examination revealed cicatricial changes of the lower fields of the right lung. Laboratory findings showed a significant reduction of plasma gamma-globulin levels due to a global deficiency of all immunoglobulins. An infectious origin of the immunoglobulin deficiency was not detected. After exclusion of other acquired etiologic conditions, the diagnosis of a variable immunodeficiency syndrome was established. After antibiotic treatment with gyrase-inhibitors, an immunoglobulin-substitution program was initiated. Immediately after the start of an immunoglobulin infusion, the patient developed an allergic reaction. Pretreatment with antihistamine drugs eliminated allergic symptoms. Following immunoglobulin treatment, incidence and severity of infectious diseases were significantly reduced.

Increased cytosolic free sodium in platelets from patients with early-stage chronic renal failure.

Cytosolic free sodium concentration ([Na+]i) and sodium transport systems were measured in intact platelets from 19 patients with early-stage chronic renal failure and 33 healthy control subjects using the novel fluorescent dye sodium-binding-benzofuran-isophthalate. Resting [Na+]i was significantly greater in patients with chronic renal failure compared to control subjects (40.8 +/- 3.1 mmol/l versus 32.2 +/- 2.0 mmol/l, mean +/- SEM, P < 0.05). After inhibition of Na-K-ATPase by 1 mmol/l ouabain a higher net sodium influx was observed in platelets from patients with chronic renal failure compared to control subjects (49.8 +/- 8.7 mmol/l versus 28.5 +/- 5.2 mmol/l, P < 0.05). The platelet Na-H exchanger was similar in the two groups. Cytosolic free calcium concentration ([Ca2+]i) was measured using fura2 and did not show significant differences between the two groups. To evaluate whether a circulating factor may be associated with elevated [Na+]i, a linked-enzyme Na-K-ATPase assay was included. Compared to control subjects plasma from patients with chronic renal failure produced a significant inhibition of steady-state Na-K-ATPase activity by 11.2 +/- 3.0% (P < 0.01). It is concluded that early-stage renal failure is associated with significant impairment of platelet sodium metabolism.

Increased cytosolic free sodium concentrations in platelets from type 2 (non-insulin-dependent) diabetic patients is associated with hypertension.

Cytosolic free sodium concentrations ([Na+]i) in intact platelets from 32 type 2 (non-insulin-dependent) diabetic patients and from 27 age- and sex-matched non-diabetic control subjects were measured with the novel sodium-sensitive fluorescent dye sodium-binding-benzofuran-isophthalate. [Na+]i was significantly higher in platelets from type 2 diabetic patients compared with control subjects (40.6 +/- 2.4 vs 32.0 +/- 2.0 mmol/l, means +/- S.E.M., P < 0.03). Both systolic and diastolic blood pressure were significantly elevated in diabetic patients compared with control subjects. Analysis of diabetic patients showed a significant association between [Na+]i and diastolic blood pressure (P = 0.026). Stimulation of Na/H exchange by thrombin increased [Na+]i in both groups. After inhibition of Na/K/ATPase by ouabain (1 mmol/l), [Na+]i was significantly increased both in diabetic patients and non-diabetic subjects in a similar way (by 40.2 +/- 7.3 and 31.7 +/- 5.3 mmol/l respectively). It is concluded that increased [Na+]i in cells from type 2 diabetic patients may be related to hypertension.

[Stroke, epilepsy and abdominal pain as leading symptoms in a case of mitochondrial encephalomyopathy]. / Schlaganfälle, Epilepsie und abdominelle Schmerzen als Leitsymptome einer mitochondrialen Enzephalomyopathie.

A 17-year old girl presented with recurrent seizures, strokes, fatigue, vomiting, cerebellar ataxia, dementia and hypertrichosis. Further examinations showed jerking left-sided arm reflexes, partial internal deafness and myopathy. CT and MR of the skull revealed radiolucencies within the cerebral matter of the cortex and the medulla. Laboratory tests showed increased levels of lactate and pyruvate in serum and cerebro-spinal fluid. Microscopic examination of muscular tissue showed "ragged red fibers". Electron microscopy yielded crystal inclusions in mitochondria. The symptoms represented the complete picture of the so-called MELAS/MERRF-complex, which can be easily misdiagnosed as strokes and seizures of unknown cause.