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 nine year old mentally retarded girl with moderate splenomegaly and ascites presented with chronic cholelithiasis. The presence of Kayser-Fleischer rings and low serum ceruloplasmin level confirmed the diagnosis of Wilson's disease. Cirrhosis of liver and recurrent episodes of hemolysis--these two common complications of Wilson's disease make an ideal setting for gall stone formation. Only three such cases have been reported worldwide and ours is the first case report from India. We suggest that cholelithiasis and splenomegaly in a child without evidence of congenital hemolytic disease should be taken as a suspect of Wilson's disease.
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PMID:Cholelithiasis in a child--an unusual presentation of Wilson's disease. 1186 71

Splenectomy and cholecystectomy are among the common surgical procedures required to treat complications of sickle-cell disease (SCD), and when performed separately have been shown to be safe and effective. To determine whether cholecystectomy be performed concomitantly with splenectomy (CSC) in these children, we studied a total of 130 children who underwent splenectomy for various hematologic diseases at our hospital. The most common indication was SCD. Ninety-nine patients (86 SCD and 13 sickle-B-thalassemia) underwent splenectomy and 19 (19.2%) (12 males and 7 females, mean age 13.4 years [7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18]) underwent CSC due to concomitant gallstones, which were asymptomatic in 13 cases. Those with an admission hemoglobin (Hb) of less than 10 g/dl were transfused with packed erythrocytes to increase their Hb to 10-12 g/dl and their hematocrit to 30%-40%. All patients received intravenous hydration the night before surgery at a rate of 1(1/2) times their maintenance rate, which was continued postoperatively until they were able to tolerate adequate oral fluid intake. The indications for splenectomy in those who had CSC were: acute splenic sequestration crisis in 12, splenic abscess in 3, hypersplenism in 2, and massive splenic infarction in 2. Eight patients had massive splenomegaly (spleen weight >1 kg). In 7 cases CSC was done through a left-upper-quadrant (LUQ) transverse incision, in the remaining 12 through an upper midline incision. There was no mortality and only 2 patients developed postoperative complications; a wound infection in 1 and a hematoma in the splenic bed in another. With good perioperative management, CSC is both safe and effective for children with SCD. Both procedures can be performed safely through an upper midline or a LUQ transverse incision, even in the presence of massive splenomegaly.
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PMID:Should cholecystectomy be performed concomitantly with splenectomy in children with sickle-cell disease? 1272 29

We describe a 6-year-old girl and her mother with dominant beta-thalassemia due to hemoglobin Hradec Kralove (Hb HK). Both patients presented microcytic anemia, jaundice, splenomegaly, cholelithiasis, and recurrent hemolytic bouts. Osmotic resistance tests using saline and coiled planet centrifugation revealed the increased fragility of the red cell membrane. On the other hand, the glycerol lysing time was prolonged, and results of the isopropanol test were weakly positive. Despite mimicking the features of hereditary spherocytosis, the results of the genetic analyses verified the second reported family with Hb HK (codon 115, GCC [Ala] --> GAC [Asp]). Splenectomy was effective for the amelioration of hemolysis. Of 7 reported patients with Hb variants at beta-globin codon 115 (Hb Madrid and Hb HK), 5 underwent splenectomy. Because of the variable augmentation of extramedullary hemolysis in dominant beta-thalassemias, genotyping is necessary for determining the clinical indication of splenectomy.
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PMID:Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen. 1468 90

Gallstone disease is a common association in patients with haematological splenomegaly. When indicated, simultaneous splenectomy and cholecystectomy should be performed and traditionally this is accomplished by open surgery. We report a 17 year old thalassaemic girl with splenomegaly complicated by gallstone pancreatitis. We treated her with a combination of needlescopic cholecystectomy and laparoscopic splenectomy as well as delivering the huge spleen via a pfannenstiel incision to hide the scar. We believe this technique is an acceptable alternative mainly for rapid delivery of the spleen and to minimize visible scars hence improving cosmesis.
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PMID:Combined needlescopic cholecystectomy and laparoscopic splenectomy for the treatment of thalassaemic splenomegaly and cholelithiasis. 1475 Mar 88

The sliding-window method of minimally invasive abdominal surgery was introduced in adults. Here, we describe its use in children. Two girls below age 12 underwent minilaparotomy by this method through umbilical incisions. Conditions requiring the operations were a large omental cyst in one patient and splenomegaly and cholelithiasis in the other. Postoperative courses were uneventful, and cosmetic results were acceptable. An umbilical approach using the sliding-window method is a practical way to avoid large abdominal incisions in pediatric patients undergoing major abdominal surgery.
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PMID:Umbilical approach using the sliding-window method to avoid a large abdominal incision: report of two pediatric cases. 1622 43

Partial splenectomy is an alternative to total splenectomy for the treatment of congenital hemolytic anemias (CHAs) in children, although the feasibility of this technique in the setting of massive splenomegaly is unknown. This study was designed to evaluate the safety and efficacy of partial splenectomy in children with CHAs and massive splenomegaly. This retrospective study examined 29 children with CHAs who underwent partial splenectomy. Children were divided into 2 groups based on splenic size: 8 children had splenic volumes greater than 500 mL, whereas 21 children had splenic volumes less than 500 mL. Outcome variables included perioperative complications, transfusion requirements, hematocrits, reticulocyte counts, bilirubin levels, splenic sequestration, and splenic regrowth. All 29 children underwent successful partial splenectomy with 0.02 to 10 years of follow-up. After partial splenectomy, children overall had decreased transfusion requirements, increased hematocrits, decreased bilirubin levels, decreased reticulocyte counts, and elimination of splenic sequestration. Children with massive splenomegaly had similar outcomes compared with children without massive splenomegaly. Long-term complications included 3 mild infections, 4 cases of gallstones requiring cholecystectomy, and 1 child who required completion splenectomy. Partial splenectomy is a safe, effective, and technically feasible option for children with various CHAs, even in the setting of massive splenomegaly.
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PMID:Partial splenectomy for children with congenital hemolytic anemia and massive splenomegaly. 1835 83

We performed laparoscopic cholecystectomy for symptomatic cholelithiasis on four patients with cirrhosis of the liver, two of whom had clinical portal hypertension and splenomegaly. Preoperative examination disclosed hypersplenism in one patient, while mild thrombocytopenia and decreased prothrombin concentration were noted in three patients. However, no remarkable bleeding tendency was recognized clinically in any of the patients. Preoperatively, by Child-Pugh's criteria, three patients had class B disease and one class A disease. Intraoperatively, remarkable inflammatory change or fibrotic change of the gallbladder wall and Calot's triangle was observed in two cases, and collateral veins and lymphangial congestion were observed in all four cases. In the first case, extreme bleeding and lymphorrhea from dissected sites were observed, and a 1.5 unit of transfusion of whole blood was required during operation. Postoperatively, increase in ascites which was controlled with diuretics was recognized in one case. However, the postoperative course was uneventful in all cases, and no serious complications were recognized.That laparoscopic cholecystectomy can be safely performed in patients with cirrhosis if careful and appropriate management of bleeding and lymphorrhea from sites of dissection is ensured, is encouraging.
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PMID:Laparoscopic cholecystectomy for cholelithiasis in patients with liver cirrhosis. 1849 57

Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia. Some individuals are asymptomatic, whereas others have severe haemolytic anaemia requiring erythrocyte transfusion. The primary lesion in hereditary spherocytosis is loss of membrane surface area, leading to reduced deformability due to defects in the membrane proteins ankyrin, band 3, beta spectrin, alpha spectrin, or protein 4.2. Many isolated mutations have been identified in the genes encoding these membrane proteins; common hereditary spherocytosis-associated mutations have not been identified. Abnormal spherocytes are trapped and destroyed in the spleen and this is the main cause of haemolysis in this disorder. Common complications are cholelithiasis, haemolytic episodes, and aplastic crises. Splenectomy is curative but should be undertaken only after careful assessment of the risks and benefits.
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PMID:Hereditary spherocytosis. 1894 Apr 65

Splenectomy is indicated in hereditary spherocytosis to relieve symptoms due to anaemia or splenomegaly, reverse growth failure or skeletal changes due to over-robust erythropoiesis, and prevent recurrent gallstones. A life-long risk of bacterial infection has been recognised for many years as a concomitant cost of splenectomy. The scope of this risk has expanded to include a number of organisms beyond the triad of pneumococcus, meningococcus, and haemophilus influenzae. Recently, it has been demonstrated that splenectomy also confers a significant risk of delayed adverse vascular events in patients with hereditary spherocytosis, just as it does in patients undergoing splenectomy for other indications. Further, these same studies demonstrated a benefit of avoiding splenectomy: hereditary spherocytosis patients with a spleen have significantly fewer adverse vascular events than unaffected family members, probably because of the protective effect of chronic, mild anaemia. Accordingly, this review marshals the evidence favouring a conservative approach to splenectomy in spherocytosis.
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PMID:Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis--a personal view. 1938 26

Hereditary spherocytosis (HS) is an inherited membranopathy characterized by phenotypic and genotypic heterogeneity. This study describes the clinico-hematological profile of 70 HS patients diagnosed at a tertiary care center in North India over a period of five years. Patients commonly presented with intermittent jaundice (82.9%), pallor (80%) and dark colored urine (11.4%). The common signs were splenomegaly (92.9%), hepatomegaly (50%), cholelithiasis or choledocholithiasis (36.8%) and hemolytic facies (10%). Family history was contributory in 28.6% patients. Blood transfusion (BT) requirement was present in 35.7% patients. Unconjugated and conjugated hyperbilirubinemia was seen in 89.1 and 10.9% patients respectively. At presentation, the hemoglobin ranged from 3-14 g/dl with a mean of 9.37 g/dl (SD2.43). Spherocytes were seen in 88.6% and incubated Osmotic fragility test (OFT) was positive in 88.2% patients. The Eosin-5-maleimide (EMA) flow cytometric test was done in 28 patients. Mean fluorescence intensity (MFI) for normal subjects was 11861.5 (SD-883.51) and for confirmed HS patients was 7949.3 (SD1304.1). Taking the MFI range of 5341.1-10 557.5 for HS, eight cases of suspected HS/undiagnosed hemolytic anemia with a negative (n=5) or equivocal (n=3) incubated OFT were diagnosed as HS. An increase in HbF level was seen in 10 cases ranging from 2.1 to 17.7% with a mean of 5.66%, three of these had associated beta thalassaemia trait. Twelve patients (17%) underwent splenectomy and 91% of them did not require any BT post-splenectomy. Among the patients treated conservatively 49% had persisting pallor and 16.3% had transfusion requirement.
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PMID:Clinico-hematological profile of hereditary spherocytosis: experience from a tertiary care center in North India. 1949 Jul 62


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