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)

A case report of a 58-year-old patient with hereditary spherocytosis and large paravertebral masses in the thorax and abdomen is presented MRI detects the origin of the masses with typical signal intensities of the masses and the bone marrow in T1 and T2 weighted sequences as extramedullary hematopoiesis. In this special case there is bleeding into these masses and, as often, liver hemosiderosis and splenomegaly.
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PMID:[Nuclear spin tomographic findings in compensated chronic hemolysis. A case report of a hereditary spherocytosis]. 836 56

Red blood cell (RBC) protein 4.2 deficiency is often associated with a moderate nonimmune hemolytic anemia, splenomegaly, and osmotically fragile RBCs resembling, but not identical to, hereditary spherocytosis (HS). In the Japanese type of protein 4.2 deficiency (protein 4.2Nippon), the anemia is associated with a point mutation in the protein 4.2 cDNA. In this report, we describe a patient with moderate and apparently episodic nonimmune hemolytic anemia with splenomegaly, spherocytosis, osmotically fragile RBCs, reduced whole cell deformability, and abnormally dense cells. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis analysis of the proposita's RBC membrane proteins showed an 88% deficiency of protein 4.2 and a 30% deficiency of glyceraldehyde-3-phosphate dehydrogenase (band 6). Structural and molecular analyses of the proposita's protein 4.2 were normal. In contrast, limited tryptic digestion of the proposita's band 3 showed a homozygous abnormality in the cytoplasmic domain. Analysis of the pedigree disclosed six members who were heterozygotes for the band 3 structural abnormality and one member who was a normal homozygote. Direct sequence analysis of the abnormal band 3 tryptic peptide suggested that the structural abnormality resided at or near residue 40. Sequence analysis of the proposita's band 3 cDNA showed a 232G-->A mutation resulting in a 40glutamic acid-->lysine substitution (band 3Montefiore). Allele-specific oligonucleotide hybridization was used to probe for the mutation in the pedigree, showing that the proposita was homozygous, and the pedigree members who were heterozygous for the band 3 structural abnormality were also heterozygous for the band 3Montefiore mutation. The band 3Montefiore mutation was absent in 26 chromosomes from race-matched controls and in one pedigree member who did not express the band 3 structural abnormality. In coincidence with splenectomy, the proposita's anemia was largely corrected along with the disappearance of most spherocytes and considerable improvements of RBC osmotic fragility, whole cell deformability, and cell density. We conclude that this hereditary hemolytic anemia is associated with the homozygous state for band 3Montefiore (40glutamic acid-->lysine) and a decreased RBC membrane content of protein 4.2. We speculate that band 3 structural abnormalities can result in defective interactions with protein 4.2 and band 6, and in particular, that the region of band 3 containing 40glutamic acid is involved directly or indirectly in interactions with these proteins.
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PMID:Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore). 847 74

A 62-year-old man with a history of hereditary spherocytosis had an abnormal shadow on a chest X-ray film, but the shadow was not examined further. The patient was admitted to our hospital because of severe anemia, multiple gallstones, and splenomegaly. Acute cholecystitis developed due to gallstones. A smear of peripheral blood showed spherocytosis, and the osmotic fragility as measured by Parpart's method was abnormally high. These findings are consistent with hereditary spherocytosis. Splenectomy and cholecystectomy were done. The chest X-ray film, CT scan, and MRI revealed multiple well-demarcatd paravertebral masses. A biopsy of a mediastinal mass was done with an ultrasonically guided needle, and hyperplasic erythroid hemopoietic tissue was obtained. This finding led to the diagnosis of extramedullary hematopoeisis. We think extramedullary hematopoeisis should be included in the differential diagnosis of posterior mediastinal masses.
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PMID:[Intrathoracic extramedullary hematopoiesis in a case of hereditary spherocytosis]. 871 95

Laparoscopic splenectomy often involves difficulties in patients with splenomegaly because of a poor visual field and distorted and enlarged vessels secondary to the enlarged spleen. For safe and efficient laparoscopic splenectomy, we performed balloon occlusion of the splenic artery with the interventional angiographic technique in a patient with hereditary spherocytosis and splenomegaly. This new approach may be useful in terms of safety and time savings, especially in patients with splenomegaly.
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PMID:Laparoscopic splenectomy aided by balloon occlusion of the splenic artery: report of a case. 884 Apr 60

Total splenectomy eliminates the splenic destruction of erythrocytes with impaired deformability. However, concern has increased over the lifelong risk of overwhelming postsplenectomy infections in splenectomized patients, a risk reduced but not totally suppressed by appropriate prophylaxis. Partial splenectomy, as long as 80% to 90% of the enlarged spleen is removed and less than 25% of the normal spleen volume is retained, is a logical alternative, both preserving the phagocytic and immune function of the spleen and decreasing erythrocyte destruction. A 12-year experience has shown that subtotal splenectomy is efficient in decreasing hemolysis, although to a lesser extent than total splenectomy, with sustained results over years in most patients, and indirect evidence argues for the integrity of phagocytic function. Such a surgical procedure should be considered in transfusion-dependent infants with hereditary spherocytosis and in older patients with erythrocyte membrane defects, provided further follow-up confirms the experience of the past 12 years.
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PMID:Effectiveness of partial splenectomy in hereditary spherocytosis. 910 31

Laparoscopic splenectomy is rapidly becoming a common treatment modality in the surgical management of hematological processes involving the spleen. Hereditary spherocytosis is the most common red blood cell membrane disorder, and its diagnosis is often associated with hemolytic crisis and premature cholelithiasis. This condition has not been successfully treated laparoscopically until recently, and to our knowledge, the technique of concomitant laparoscopic splenectomy and cholecystectomy described here is the first reported in U.S. literature. Our patients, a 16-year-old 5-foot 3-inch-tall 90 pound emaciated albino, presented with cholelithiasis, splenomegaly, and anemia. Because of persistent anemia and gastrointestinal symptoms, the patient underwent laparoscopic cholecystectomy and splenectomy. The cholecystectomy was performed in a standard laparoscopic fashion. An additional 12-mm trocar was utilized for takedown of the spleen. The umbilical incision was extended to 4.5 cm, and the spleen was extracted manually. Total operative time was 12 hours. Examination demonstrated a 15 x 10 x 5-cm spleen, which weighed 350 grams. The gallbladder microscopically showed cholecystitis and had several stones. In conclusion, we present a combined laparoscopic cholecystectomy and splenectomy for hereditary spherocytosis associated with splenomegaly, cholelithiasis, and cholecystitis.
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PMID:Concomitant laparoscopic cholecystectomy and splenectomy for surgical management of hereditary spherocytosis. 916 68

In 1988-1994 at the Pediatric Surgical Clinic, Faculty Hospital Motol splenectomy was performed in 66 children. Indication for splenectomy were haematological diseases (52), malignant and benign tumours (12) and congestive splenomegaly associated with cytopenia (2). The group does not comprise patients operated on account of injury. The most frequent haematological indications of splenectomy include haemolytic anaemia, chronic idiopathic thrombocytopenic purpura, hypersplenism and other conditions (haematological malignancies). The investigation is focused on haematological indications of splenectomy in childhood and its effect on treatment of the basic disease. Splenectomy on account of hereditary spherocytosis was performed in 31 patients. In all after surgery normalization of the haemogram was recorded. Of 11 patients, who were operated on account of idiopathic thrombocytopenic purpura (ITP) in nine normalization or marked elevation of the number of thrombocytes was observed. In two patients the rise of thrombocytes was slight however haemorrhagic manifestations of the disease receded. One patient operated on account of thrombocytopenia linked to the X chromosome died. In nine patients operated on account of other haematological indications after splenectomy improved values of the haemogram were observed. The immune state of the patients was not investigated.
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PMID:[Hematologic indications for splenectomy in childhood]. 926 52

Hereditary spherocytosis is the most common inherent, autosomal dominant hemolytic anemia. Mild splenomegaly, venostasis and common decrease of while pulp is characteristic for hereditary spherocytosis. Cords are filled with spherocytes, sinuses can be empty or squeezed. Both sinuses and veins include ghost erythrocytes that lost haemoglobin. They are seen light-microscopically in differential interferent contrast. Macrophages are numerous, sinus lining cells are hypertrophic. Erythrophagocytosis is hardly seen by electron microscope. Not all red blood cells are spherocytes. Spherocytes are seen well in electronmicroscopy. We did not observed transition of erythrocytes through sinus walls. In certain circumstances lots of ferritin is seen both intra and extracytoplasmically. Iron accumulation in cords can result in their fibrosis.
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PMID:[The spleen in hereditary spherocytosis]. 956 Aug 87

Resistance and elastic deformability of red cells are due to a protein network (cytoskeleton) that laminates the lipid bilayer and to proteins that span the latter. All proteins are interconnected. Their structure as well as the structure of the corresponding genes are now well known. Hereditary spherocytosis (HS) is the most common hemolytic anemia due to a red cell membrane defect. It derives from alterations of the following genes: ANK1, EPB3, ELB42, SPTA1 and SPTB. This condition is clinically, biochemically and genetically heterogeneous. The osmotically fragile spherocytes are selectively trapped in the spleen and destroyed. Increased red blood cell destruction causes the three main clinical signs of HS: anemia, jaundice and splenomegaly. In this review we analyze the most recent advances concerning the molecular basis and the clinical course of HS. In particular, we examine the major individual proteins that constitute the skeleton, which are now known to play an essential role in the pathogenesis of HS. This paper also includes a review of the therapeutical approach to HS. Concerning the diagnosis we provide a flow chart from the clinical aspects to the molecular diagnosis.
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PMID:Hereditary spherocytosis: from clinical to molecular defects. 957 79

This is a report about two cases of hereditary spherocytosis complicated by severe hypophosphatemia, while recovering from aplastic crisis. Case #1: A 31-year-old male, who had jaundice and splenomegaly since the age of 15 and who has a son diagnosed with hemolytic anemia, was admitted because of fever lymphadenopathy, and jaundice. A diagnosis of hereditary spherocytosis was made based on microspherocytes observed in his peripheral blood smear. After admission, the anemia became more serious for a few days and he was considered suffering from bone marrow aplastic crisis. His serum phosphorus level fell to 0.5 mg/dl on the second day, but it rapidly returned to normal as reticulocyte counts rose. Case #2: A 29-year-old male with known transient jaundice and splenomegaly suffered from fever, anemia and jaundice, but recovered two weeks later. Laboratory examination revealed positive human Parvovirus B19 (HPV-B19) DNA, anti-HPV-19 IgM and IgG-antibody. His serum phosphorus level fell to 1.2 mg/dl on the eighth day, but it rose in the same manner as seen in case #1. The fall in serum phosphorus is probably due to its shift to the erythroblasts during erythroid hyperplasia.
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PMID:[Hereditary spherocytosis associated with severe hypophosphatemia in patients recovering from aplastic crisis]. 963 90


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