1/12. Sildenafil as a selective pulmonary vasodilator in childhood primary pulmonary hypertension.Primary pulmonary hypertension is a rare disease of childhood, which carries a poor prognosis. patients often present with severe exercise limitation, and untreated life expectancy is less than 1 year. Pharmacological intervention is directed towards reduction of the raised pulmonary artery pressure with vasodilator treatment, initially with calcium antagonists, although more recently long term prostacyclin treatment has shown benefit in some patients. heart-lung transplantation remains an option for children with severe disease refractory to therapeutic treatment. A 4 year old Bangladeshi girl with dyspnoea, cyanosis, and signs of a low cardiac output, is described. Initial treatment with prostacyclin was gradually reduced, and maintenance treatment with oral sildenafil (Viagra; Pfizer) instituted. At follow up 3 months later, her exercise capacity was greatly improved and she continues to enjoy a good quality of life without obvious side effects. In view of the encouraging initial results, this may become an acceptable adjunct in treating this patient group.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/12. Long term inhalation of iloprost in a child with primary pulmonary hypertension: an alternative to continuous infusion.Primary pulmonary hypertension is a rare disease in childhood associated with a poor prognosis. However, during the past 10 years, pulmonary vasodilator treatment has somewhat improved its prognosis. Long term continuous infusion of prostacyclin (epoprostenol) has been shown to improve physical capacity and to reduce mortality in primary and secondary pulmonary hypertension. It has been reported in adults that daily repetitive inhalation of iloprost, a prostacyclin analogue, seems also suitable for long term therapy of pulmonary hypertension. Repetitive inhalation of iloprost was administered to a 5 year old boy with severe primary pulmonary hypertension. He showed continuous clinical improvement without any side effects over the three years of treatment. This treatment may offer an alternative to continuous intravenous prostacyclin infusion and obviates the need for a permanent central venous catheter.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/12. An autopsy case of pulmonary capillary hemangiomatosis without evidence of pulmonary hypertension.We report a case of pulmonary capillary hemangiomatosis (PCH) affecting a 37-year-old woman. PCH is a rare disease accompanying intrapulmonary capillary growth and pulmonary hypertension. In the present case, capillaries infiltrated the alveolar and bronchial walls but not the vascular walls. No signs or symptoms of pulmonary hypertension or right heart hypertrophy/dilatation were present. These findings suggest that vascular involvement in PCH is responsible for the induction of pulmonary hypertension.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/12. Familial primary pulmonary hypertension.Primary pulmonary hypertension is a rare disease affecting mostly females. We report a family where 2 of the 3 male children born to consanguineous parents had severe pulmonary hypertension of unexplained cause. The occurrence of overtly manifest primary pulmonary hypertension is rare in males, especially at an early age.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/12. Congenital pulmonary capillary hemangiomatosis: Report of two cases and review of the literature.Pulmonary capillary hemangiomatosis (PCH) is a rare disease characterized by pulmonary hypertension and excessive neovascularization within the pulmonary interstitium, vasculature, and airways. We describe two unusual cases of congenital PCH. Both cases had concurrent anomalies, including renal and urinary bladder agenesis and hypertropic cardiomyopathy. In one case, capillary proliferation caused significant impingement of the proximal bronchial airways. A review of the current literature is described.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/12. Treatment of secondary pulmonary hypertension with bosentan and its pharmacokinetic monitoring in ESRD.Pulmonary hypertension (PH) is a rare disease with a very poor prognosis. Certain pharmacologic approaches, which reduce pulmonary arterial pressure (PAP) and thereby prevent end-stage cardiopulmonary failure, have been used during recent years. endothelin-1 has been found to be involved in the pathogenesis of PH. The dual endothelin-receptor antagonist, bosentan, was recently approved for the treatment of pulmonary arterial hypertension. The drug is mainly cleared by hepatic elimination. Severe renal dysfunction does not affect the single-dose pharmacokinetics of bosentan to a clinically relevant extent. Whether renal replacement therapy, however, interferes with the pharmacokinetics of bosentan is unknown. The authors report on the use of bosentan (125 mg twice daily) and its pharmacokinetic monitoring in a 19-year-old woman with PH and end-stage renal disease secondary to scleroderma. Treatment was well tolerated without drug-specific adverse effects. After 12 months of treatment, pulmonary arterial pressure had normalized (48 mm Hg before start of treatment, 27 mm Hg at last follow-up). On the basis of analyzing samples from Genius-hemodialysis by a liquid chromatography assay with tandem mass spectrometry detection, the authors determined the bosentan dialysis clearance to be as low as 3.5 mL/min. Bosentan for the treatment of secondary PH seems to be safe as well as effective in end-stage renal disease patients and no adjustment of the bosentan dosing regimen appears necessary.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/12. Two cases of familial primary pulmonary hypertension.Case 1, a 28-year-old woman (third daughter of Case 2) delivered her first child in September 2000, but leg edema and dyspnea on exertion appeared the following January. At the time of our first examination of the patient in May 2001, a chest X-ray showed cardiomegaly and pulmonary artery enlargement. echocardiography demonstrated enlargement of the right ventricle and small left ventricular dimensions, and an electrocardiogram revealed right ventricle hypertrophy. After perfusion-ventilation lung scintigraphy and cardiac catheterization, she was diagnosed as having primary pulmonary hypertension (PPH). Although she was discharged with prescriptions for a diuretic, warfarin and beraprost sodium, she died of a pulmonary hypertensive crisis twenty days after readmission. Case 2, a 60-year-old woman(mother of Case 1) developed the same symptoms as those in Case 1, in May 2001, but recovered after medication. PPH is a rare disease and only a few familial cases are reported. In this family, the eldest daughter of Case 2 had also died of pulmonary hypertension ten years ago, several months after her first delivery. In contrast to the daughters, the mother's symptoms developed gradually.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/12. recurrence of pulmonary veno-occlusive disease after heart-lung transplantation.pulmonary veno-occlusive disease, a rare cause of pulmonary hypertension, is characterized by extensive and diffuse occlusion of pulmonary veins by fibrous tissue. Although the diagnosis can be suspected by the presence of the classic clinical triad of severe pulmonary arterial hypertension, radiographic evidence of pulmonary hypertension and edema, and normal pulmonary artery occlusion pressure, the definitive diagnosis is histopathologic. The prognosis of pulmonary veno-occlusive disease is poor with most described patients dying within 2 years of diagnosis. Although anti-coagulation, oxygen, and vasodilator therapies are effective temporarily, the definitive treatment is lung transplantation. We describe the recurrence of pulmonary veno-occlusive disease at 3 months after heart-lung transplantation in a 26-year-old man. recurrence after transplantation for this disease has not been reported previously, and lung transplantation was thought to be definitive treatment. With this 1st report of early recurrence of pulmonary veno-occlusive disease after heart-lung transplantation, we believe that extrapulmonary factors may play a role in the pathogenesis of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/12. Pulmonary hypertension: its diagnosis and management, a multidisciplinary approach.Pulmonary hypertension is a devastating complication of various, but rare diseases and can also occur as an isolated entity. It causes morbidity and mortality in all patients. Ongoing research has provided some insight into the pathophysiology and clinical manifestations, and new therapeutic options have recently become available for some types of pulmonary hypertension. In order to provide optimal care for an individual patient it is mandatory to establish the type and severity of the pulmonary hypertension in each patient. The diagnostic protocol used in our hospital is presented along with a description of two case histories. An algorithm of the different therapeutic strategies now available is given as well as recommendations for follow-up.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/12. Primary pulmonary hypertension and functional hyposplenism.Primary pulmonary hypertension is a rare disease of unknown case. Functional hyposplenism is characterized by the appearance of abnormal circulating erythrocytes despite the presence of a spleen and is associated with a variety of disease states. A case of primary pulmonary hypertension associated with functional hyposplenism is described in this report.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
| | Next -> |