Case report: A 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus

Hypoparathyroidism is a rare disease in children that occurs as a result of autoimmune destruction of the parathyroid glands, a defect in parathyroid gland development or secondary to physical parathyroid gland disturbance. Typical symptoms of hypoparathyroidism present as hypocalcaemia and hyperphosphatemia due to decreased parathyroid hormone secretion and may lead to nerve and muscles disturbances resulting in clinical manifestation of tetany, arrhythmias and epilepsy. Currently, there is no conventional hormone replacement treatment for hypoparathyroidism and therapeutic approaches include normalising mineral levels using an oral calcium supplement and active forms of vitamin D. We present the case of a 10-year old girl with primary hypoparathyroidism who had no prior history of autoimmune disorders, but who subsequently developed systemic lupus erythematosus

Long term non-invasive domiciliary assisted ventilation for respiratory failure following thoracoplasty.

BACKGROUND--Ventilatory failure is a well recognised complication of patients who have had a thoracoplasty for tuberculosis, but there are few data regarding the value of long term non-invasive assisted ventilation in this situation. METHODS--Thirty two patients who had had a thoracoplasty 20-46 years previously and who had developed respiratory failure were treated with nocturnal cuirass assisted ventilation or nasal positive pressure ventilation. Their survival and changes in arterial blood gases, nocturnal oximetry, and pulmonary function tests were assessed. RESULTS--The actuarial survival rates at one, three, five, and seven years after starting treatment were 91%, 74%, 64%, and 55%, respectively. Only seven of the 13 deaths were directly attributable to chronic respiratory or cardiac failure. The arterial PO2, PCO2, mean nocturnal oxygen saturation, vital capacity, and maximal inspiratory and expiratory pressures had all improved at the time of the initial post-treatment assessment (mean 12 days after starting treatment), but no subsequent improvements were seen after up to 48 months of follow up. Neither survival nor physiological improvements were correlated with the patients' age, the interval since thoracoplasty, or the pretreatment arterial blood gas tensions or results of pulmonary function tests. CONCLUSIONS--These results show that, even when ventilatory failure has developed, the prognosis with non-invasive assisted ventilation is good and the physiological abnormalities can be partially reversed. Patients who develop respiratory failure after a thoracoplasty should be considered for this type of long term domiciliary treatment

Outcome of domiciliary nasal intermittent positive pressure ventilation in restrictive and obstructive disorders.

BACKGROUND--Nasal intermittent positive pressure ventilation (NIPPV) is a new technique which has rapidly supplanted other non-invasive methods of ventilation over the last 5-10 years. Data on its effectiveness are limited. METHODS--The outcome of long term domiciliary NIPPV has been analysed in 180 patients with hypercapnic respiratory failure predominantly due to chest wall restriction, neuromuscular disorders, or chronic obstructive lung disease. One hundred and thirty eight patients were started on NIPPV electively, and 42 following an acute hypercapnic exacerbation. Outcome measures were survival (five year probability of continuing NIPPV), pulmonary function, and health status. A crossover study from negative pressure ventilation to NIPPV was carried out in a subgroup of patients. RESULTS--Five year acturial probability of continuing NIPPV for individuals with early onset scoliosis (n = 47), previous poliomyelitis (n = 30), following tuberculous lung disease (n = 20), general neuromuscular disorders (n = 29), and chronic obstructive pulmonary disease (n = 33) was 79% (95% CI 66 to 92), 100%, 94% (95% CI 83 to 100), 81% (95% CI 61 to 100), 43% (95% CI 6 to 80), respectively. Most of the patients with bronchiectasis died within two years. One year after starting NIPPV electively the mean (SD) PaO2 compared with the pretreatment value was +1.8 (1.9) kPa, mean PaCO2 -1.4 (1.3) kPa in patients with extrapulmonary restrictive disorders, and PaO2 +0.8 (1.0) kPa, PaCO2 -0.9 (0.8) kPa in patients with obstructive lung disease. Arterial blood gas tensions improved in patients transferred from negative pressure ventilation to NIPPV. Health status was ranked highest in patients with early onset scoliosis, previous poliomyelitis, and following tuberculous lung disease. In the group as a whole health perception was comparable to outpatients with other chronic disorders. CONCLUSIONS--The long term outcome of domiciliary NIPPV in patients with chronic respiratory failure due to scoliosis, previous poliomyelitis, and chest wall and pulmonary disease secondary to tuberculosis is encouraging. The results of NIPPV in patients with COPD and progressive neuromuscular disorders show benefit in some subgroups. The outcome in end stage bronchiectasis is poor