Synchronous splenectomy during cholecystectomy for hereditary spherocytosis: Is it really necessary?

Background/Purpose

Expert guidelines recommend performing synchronous splenectomy in patients with mild hereditary spherocytosis (HS) and symptoms of gallstone disease. This recommendation has not been widely explored in the literature. The aim of this study is to determine if our data support expert opinion and if different practice patterns should exist.

Methods

This is an IRB-approved retrospective study. All HS patients under 18 years of age who underwent cholecystectomy for symptomatic gallstones at a single institution between 1981 and 2009 were identified. Patients who underwent cholecystectomy without concurrent splenectomy were reviewed retrospectively for future need for splenectomy and evidence of recurrent gallstone disease.

Results

Of the 32 patients identified, 27 underwent synchronous splenectomy. The remaining 5 patients underwent cholecystectomy without splenectomy and had a mean age of 9.4 years. One of the 5 patients eventually required splenectomy for left upper quadrant pain. None of the remaining 4 required hospitalization for symptoms related to hemolysis or hepatobiliary disease. Median follow-up is 15.6 years.

Conclusion

The need for splenectomy in patients with mild HS and symptomatic cholelithiasis should be assessed on a case by case basis. Our recommendation is to not perform synchronous splenectomy in conjunction with cholecystectomy for these patients if no indication for splenectomy exists.     

Pediatric laparoscopic splenectomy

Background: Lateral laparoscopic splenectomy in adults, first reported in 1991, was begun with children in 1993. Methods: The authors reviewed records of 59 patients 2 to 17 years old who underwent laparoscopic splenectomy by the lateral approach between 1994 and 1998 at four medical centers. Patients received prophylactic penicillin or vaccinations preoperatively. Results: Of the 59 patients, 51 required splenectomy for one of the following conditions: idiopathic thrombocytopenic purpura, hereditary spherocytosis, or sickle-cell disease. Splenomegaly was found in 86% of the patients, and ten accessory spleens were resected. No deaths or infection occurred, and only three patients had perioperative complications: acute chest crisis, small diaphragmatic injury, and intraoperative hemorrhage. One operation was converted to a minilaparatomy because of difficulty with specimen extraction. Conclusions: Pediatric laparoscopic splenectomy is safe and effective, resulting in little blood loss, rapid recovery, and a good cosmetic outcome. Received: 12 February 1999/Accepted: 24 September 1999/Online publication: 8 May 2000     

Defects in processing and trafficking of the AE1 Cl<Superscript>−</Superscript>/HCO3<Superscript>−</Superscript> exchanger associated with inherited distal renal tubular acidosis

Distal renal tubular acidosis (dRTA) results from impaired urinary acidification by the renal collecting duct. Acquired dRTA can be secondary to diverse pathological processes, including diabetic, ischemic, fibrosing, or immunological processes; less frequently it presents as a familial disorder with either an autosomal recessive or dominant pattern of transmission. Mutations in the SLC4A1/AE1/band 3 Cl^?/HCO₃ ^? exchanger gene have been identified as causes for both dominant and recessive forms of dRTA. These mutations comprise a group almost entirely distinct from the SLC4A1 mutations that underlie the familial hemolytic anemia of hereditary spherocytosis. Why does one group of mutations express almost exclusively an isolated erythroid phenotype, whereas the second group of mutations expresses almost exclusively a phenotype explicable entirely by defective function of renal collecting duct type A intercalated cells? This review summarizes current research addressing this central question in the pathobiology of inherited dRTA associated with mutations in the SLC4A1 gene. Studying dRTA-associated mutant AE1 polypeptides can provide novel insights into the biology of the intercalated cell and the collecting duct as well as more generally into mechanisms by which epithelial cells generate and maintain functional polarity.     

Partial splenectomy for children with congenital hemolytic anemia and massive splenomegaly

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.     

Erythropoiesis versus inflammation in Hereditary Spherocytosis clinical outcome

Objectives

This study aimed to evaluate the relationship between erythropoiesis and inflammation, in Hereditary Spherocytosis (HS) clinical outcome.

Design and methods

We studied 26 controls and 82 HS patients presenting mild (n = 49) and severer (n = 33) HS forms. We evaluated plasma levels of EPO, sTfR, ferritin, iron, folic acid, vitamin B12, TNF-α, IFN-γ, elastase and lactoferrin; leukocyte and reticulocyte counts and RPI were determined.

Results

All HS patients showed significantly higher EPO, sTfR, reticulocytes and RPI but only mild HS presented normal hemoglobin levels; the positive significant correlations between EPO and sTfR, reticulocytes and RPI observed in mild HS were not observed in severer HS patients. HS patients presented with higher levels of neutrophils, TNF-α, IFN-γ, elastase, lactoferrin and ferritin.

Conclusions

Our data show HS as a disease linked to enhanced erythropoiesis that is disturbed in the more severe forms, to which inflammation may contribute, at least in part.     

RED BLOOD CELL INDEXES IN PATIENTS WITH HEREDITARY SPHEROCYTOSIS AND β-THALASSEMIA COMBINATION

The spontaneous occurrence of hereditary spherocytosis (HS) and &#103 -thalassemia in the same patient is a rare event. The mean corpuscular hemoglobin concentration is elevated above the reference range in half to two-thirds of patients with HS, but there are no data for the HS/ &#103 -thal combinations for the red blood cell indexes. This study reassessed these values in these particular patients. Hemoglobin, hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), red cell distribution (RDW), and reticulocyte count were documented from 43 HS patients, 13 of which were from 10 families with the combination of &#103 -thal and HS; 28 controls were also included. Patients with HS/ &#103 -thal have a significantly lower MCV, mean corpuscular hemoglobin, and MCHC and a significantly higher RDW than normal control subjects; 95% of &#103 -thalassemia carriers are free of clinical symptoms. When red blood cell indexes reveal a possibility of a &#103 -thalassemia carrier state with the symptoms of hemolytic anemia, HS should be considered.     

Pediatric laparoscopic splenectomy using the lateral approach

Laparoscopic splenectomy in children has been shown to be safe, to reduce postoperative pain and hospital stay, and to accelerate return to full activities. We describe our experience with a four-port lateral approach in 18 patients. Patients were placed in the lateral decubitus position and the table was flexed to separate the left subcostal margin and iliac crest. The camera port was inserted at the umbilicus and additional ports were placed in the epigastrium and left lower quadrant. After mobilization of the splenic flexure a port was inserted in the left flank below the 12th rib for elevation of the spleen. A 30° laparoscope was used and the splenic vessels were controlled with an endo-GIA and/or clips. The spleens were placed in a bag, morcellated, and extracted through a port site. Eight females and 10 males with a median age of 12.5 years (5–17 years) and weight of 55.5 kg (17–124 kg) underwent splenectomy of idiopathic thrombocytopenia purpora (10), spherocytosis (6), elliptocytosis (1), and Hodgkin's disease (1). The median operating time was 160 min (90–300 min) and median blood loss was 105 ml (5–350 ml). Accessory spleens were removed in four cases. Three patients required extensions of a port site to remove large spleens which could not be placed in a bag. The sole complication was a transient pancreatitis with associated pleural effusion. The median postoperative hospital stay was 2 days (1–11 days) and time to full activities was 8 days (3–25 days). The lateral approach affords excellent visualization of the splenic vessels, pancreas, and accessory spleens. This approach is safe and reliable and is our preferred approach for laparoscopic splenectomy in children.Presented at the 1995 Annual Meeting of the Canadian Association of Pediatric Surgeons, Montreal, PQ, September 2–4, 1995     

长期皮肤黄染伴乏力确诊儿童遗传性球形红细胞增多症临床研究并文献复习

目的 探讨遗传性球形红细胞增多症(H S)患儿的临床表现及诊断经过,并进行相关文献复习.方法 选择2018年4月,首都儿科研究所附属儿童医院收治的1例HS患儿为研究对象.采用回顾性分析方法,收集该例患儿的临床病例资料,并对其病史、相关实验室检查和基因检测结果进行分析.对国内外数据库中,儿童HS相关文献进行复习.本研究符...     

儿童遗传性球形红细胞增多症中MCHC的特异性

目的观察红细胞指数平均红细胞血红蛋白浓度（Mean Corpuscular Hemoglobin Concentration,MCHC）在儿童遗传性球形红细胞增多症中的特异性。方法应用Sysmex SE-9000全自动血液分析仪检测初诊遗传性球形红细胞增多症（Hereditary Spherocytosis,HS）、自身免疫性溶血性贫血（Autoimmune Hemolytic Anemia,AHA）、巨幼红细胞性贫血（Megaloblastic Anemia,MA）、缺铁性贫血（Iron Deficiency Anemia,IDA）患儿和对照组（儿童）各50例的MCHC。结果 HS患者MCHC显著高于其他疾病组和健康对照组（P〈0.05）,MCHC临界值为355g/L时,MCHC诊断HS的灵敏度和特异性分别为87.76%和98.00%。余各组间MCHC差异无统计学意义（P〉0.05）。结论 MCHC增高的特异性,对临床诊断HS有重要提示意义。     

Ultracentrifugal analysis of the junction complexes of the red cell membrane cytoskeletal network: application to hereditary spherocytosis and metabolically depleted cells

Summary A method has been developed for the assessment of the number of spectrin dimer units associated with each actin protofilament junction, in the membrane cytoskeletal network (i.e. the degree of branching) of the red cell. Ghosts are first exposed to elevated temperature at low ionic strength to dissociate some 65% of the spectrin tetramers (that link the network junctions) into dimers, without causing their release from the actin filaments. Non-ionic detergent is then added to solubilize the membrane itself with its intrinsic proteins, so as to liberate the cytoskeletal material, and the mixture is immediately examined in the analytical ultracentrifuge. The predominent components observed are isolated junctions (20 S), free spectrin dimers and the residual undissociated cytoskeletal material, with very minor components, probably corresponding to mutiple junctions, linked by spectrin tetramers. The junction boundary is homogeneous within the accuracy of measurement and is taken to correspond to a complex containing six spectrin dimers, known to predominate in situ. About 17% of the total network is liberated in this form and 12% as free spectrin dimers. In hereditary spherocytosis both the size of the junction complex (as reflected by its sedimentation coefficient) and the proportion of the complex and of free spectrin liberated are indistinguishable from normal values. We conclude that the reported deficit of spectrin in hereditary spherocytosis is not reflected by a lower degree of branching of the network, and, if the membrane area is not correspondingly reduced, this must mean that the junctions are more widely spaced and the spectrin tetramers therefore more extended. In metabolically depleted cells, in which the cytoskeletal proteins are known to be extensively dephosphorylated, there is no change in the sedimentation pattern and thus no detectable loss of spectrin from the junctions or weakening in the cohesion of the cytoskeletal network.