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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A report is given on a 59 yr old man with hereditary spherocytosis and progressive shortness of breath on exertion, due to severe pulmonary hypertension and cor pulmonale. An open lung biopsy was performed in order to exclude all known aetiologies of secondary pulmonary hypertension. Pathological examination revealed in situ thrombosis and asymmetric fibromuscular hyperplasia of small- and medium-sized pulmonary arteries. Both primary pulmonary hypertension and hereditary spherocytosis have a low incidence in the general population and their simultaneous occurrence has not been reported previously; the possibility that this was due to a causal relationship and not to coincidence cannot be ruled out, in view of some similarities with pulmonary hypertension complicating sickle cell anaemia.
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PMID:Spherocytosis and pulmonary hypertension coincidental occurrence or causal relationship? 193 35

Glomerulomegaly is a histologic finding present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states. This study examines the case of a 34-yr-old woman with idiopathic pulmonary artery hypertension who presented with nephrotic-range proteinuria. Kidney biopsy revealed enlarged glomeruli with mesangial-proliferative glomerulonephritis. A review of the pertinent literature and a discussion of the proposed pathophysiologic mechanisms leading to glomerulomegaly are presented.
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PMID:Glomerulomegaly and proteinuria in a patient with idiopathic pulmonary hypertension. 940 1

Pulmonary hypertension is one of the leading causes of death in adult sickle cell patients, with a prevalence of 20% to 40%. Although these patients have lower pulmonary pressures than patients with primary pulmonary hypertension, both groups suffer high 2-year mortality rates. Pulmonary hypertension may go undetected until the disease is advanced. Therefore, all adult patients with sickle cell disease should be screened with transthoracic Doppler echocardiogram and the tricuspid regurgitant jet (TRJ) velocity measured to estimate pulmonary artery pressures. A regurgitant jet (RJ) velocity of 2.5 m/s or higher establishes diagnosis and suggests a high risk of death (rate ratio of 10.1; CI= 2.2-47). Basic and epidemiologic studies suggest that pulmonary hypertension in sickle cell disease is mechanistically linked to chronic hemolytic anemia. Hemolysis results in the release of hemoglobin and arginase from the erythrocyte, increasing the consumption and decreasing the production of nitric oxide (NO), respectively. NO is a critical regulator of vasodilation and vascular homeostasis whose inactivation produces vasoconstriction and proliferative vasculopathy. Finally, we review suggested therapies including the established treatments and new pulmonary vasodilator and remodeling agents in the management of pulmonary hypertension in hemolytic anemias.
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PMID:Hemolytic anemia-associated pulmonary hypertension in sickle cell disease. 1572 Sep 60

Pulmonary Hypertension is a serious complication of sickle cell disease (SCD), with high morbidity and mortality. Endothelin (ET)-1, a potent vasoconstrictor elevated in SCD, acts through the ET receptors (ETR), ETR-A and ETR-B. Bosentan and ambrisentan are ETR blockers used in primary pulmonary hypertension. We report on the use of ETR blocking agents in a cohort of 14 high-risk SCD adult patients with pulmonary hypertension. Patients underwent right heart catheterization, 6-min walk test, echocardiogram, physical examination and blood work-up before starting ETR blockers. Eight patients received ETR blockers as initial therapy; six patients were already taking sildenafil. Over more than 6 months of therapy, sequential measurements of 6-min walk distance increased significantly (baseline 357 +/- 22 to 398 +/- 18 m at 5-6 months, P < 0.05). Downward trends were observed for amino-terminal brain natriuretic peptide and tricuspid regurgitant velocity. Pulmonary artery mean pressures decreased in three patients that had repeat right heart catheterization (44-38 mmHg). Adverse events were: increased serum alanine aminotransferase (2), peripheral oedema (4), rash (1), headache (3), decreased haemoglobin (2). Therapy was stopped in two patients who were switched then to the other ETR blocker agent. These data suggest preliminary evidence for the benefit of bosentan and ambrisentan in pulmonary hypertension in SCD.
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PMID:Endothelin receptor antagonists for pulmonary hypertension in adult patients with sickle cell disease. 1977 99