Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital erythropoietic porphyria is a rare autosomal-recessive disorder of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. To date 130 cases of congenital erythropoietic porphyria have been published and are summarized here. Splenectomy, erythrocyte transfusions, and bone marrow transplantation have shown some beneficial effect. The best therapy is the avoidance of sunlight. In the two patients with congenital erythropoietic porphyria described here, oral administration of the oxygen quenchers ascorbic acid and alpha-tocopherol resulted in an improvement in the reduced hemoglobin and erythrocyte concentrations.
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PMID:Congenital erythropoietic porphyria. 909 47

Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP.
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PMID:Congenital erythropoietic porphyria. 1034 5

The People's Republic of Bangladesh has been working to eliminate visceral leishmaniasis or Kala-azar cases since there was a memorandum of understanding signed between neighboring countries in 2005. As a part of the elimination activity, 44 cases of Kala-azar were diagnosed and treated in the regional referral center Dhaka Medical College Hospital (DMCH) during the last three years, which is reported here. Confirmed leishmaniasis cases were included. Patients attending this specialized center with different demographic characteristics and varied presentations with laboratory findings were reviewed and recorded in a structured case record form. Ethical clearance was obtained prior to starting the study. A total of 44 patients with leishmaniasis were reviewed. Approximately 89% (n = 39) were New Kala-azar (NKA), 7% (n = 3) were Relapse Kala-azar (Relapse KA), only one case (2%) was Kala-azar Treatment Failure (KATF) and Post Kala-azar Dermal Leishmaniasis (PKDL) for both. The mean age of presentation was 32 years. Forty percent of patients had houses made by mud, 26% by tin shed, and the rest lived in buildings and semi-buildings. The predominant clinical features were fever (90.9%), pallor (88.6%), splenomegaly (81.8%) and hepatomegaly (68.2%). rK39 was positive in 90.7% of cases, and 94.4% of cases were positive for LD bodies on splenic aspirate. Of all, 90.90% were treated with Inj. Liposomal amphotericin B and 9.10% with the combination of Inj. Liposomal Amphotericin B and Inj. Miltefosine. Moving forward to the elimination of leishmaniasis from Bangladesh, the study highlights the status, characteristics and treatment of the disease in the country.
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PMID:Leishmaniasis in Dhaka Medical College-experience of three years. 3325 49