Additional a case of ectopic kidney with a literatural review was presented. Right kidney was located at the level of 4th lumbal spine and shortening of the right ureter. Left one was normal.
Kidney* ; Spine ; Ureter

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is one of the most important armamentarium against various hematologic malignancies or some solid tumors. We investigated the number of patients who might need transplants and compared with that of actual transplants to conceptualize current status and circumstances of HSCTs in Korean children. METHODS: Questionnaires were sent to Korean Society of Hematopoietic Stem Cell Transplantation (KSHSCT) members who were taking care of children with malignancies or hematologic diseases. Almost all of the newly diagnosed patients between Jan, 1st and Dec, 31st, 2003 were enrolled in the study. RESULTS: Seven hundred forty eight children (male to female ratio = 1.4:1) were enrolled. The median age was 6.1 years old (8 days~28.8 years old). Malignant diseases consisted of 695 cases (92.9%), and among them almost half were hematologic malignancies. The participating members speculated that HSCTs should be indicated in 285 children (38.1%) which included 209 allogeneic, and 76 autologous transplants. In reality, however, allogeneic HSCTs were performed only in 140 children (67.0%) with the median interval of 5.9 month, and autologous transplants in 44 children (57.9%) with 8.3 month. In autologous setting, all the patients received peripheral blood stem cells (PBSCs), whereas bone marrow (61%), cord blood (34%), and PBSC (5%) were used in allogeneic HSCTs. Donor types were as follows: unrelated donor (37%), cord blood (34%), sibling donor (25%), and family (4%). The reasons for not performing HSCTs were unfavorable disease status or death, no availability of suitable donor, economical situation, and refusal by parental preferences. Under the strict insurance regulations, many transplants were not covered by insurance. More autologous transplants were performed without insurance coverage than allogeneic HSCTs (P=0.013). Those cases were advanced cases and HLA mismatch transplants for allogeneic setting, and relatively rare diseases still awaiting favorable results of transplants for autologous setting. CONCLUSION: HSCTs are essential part of treatment strategies for children with various diseases. Unfortunately, however, a third of patients who were in need of transplants did not receive HSCTs due to various reasons. It is necessary to expand unrelated donor pool or cord blood banks for the cases lacking HLA-identical sibling donors. Also medical insurances should cover HSCTs for rare diseases as well as for less favorable but novel situations where there are no suitable alternatives.
Autografts ; Bone Marrow ; Child* ; Disulfiram ; Female ; Fetal Blood ; Hematologic Diseases ; Hematologic Neoplasms ; Hematopoietic Stem Cell Transplantation* ; Hematopoietic Stem Cells* ; Humans ; Insurance ; Insurance Coverage ; Parents ; Rare Diseases ; Siblings ; Social Control, Formal ; Stem Cells ; Tissue Donors ; Unrelated Donors ; Surveys and Questionnaires

BACKGROUND: The aim of this study was to investigate the prevalence, clinical and laboratory findings of hereditary hemolytic anemia (HHA) in Korea from 1997 to 2006 and to develop the appropriate diagnostic approach for HHA. METHODS: By the use of questionnaires, information on the clinical and laboratory findings ofHHA diagnosed from 1997 to 2006 in Korea was collected and analyzed retrospectively. A total of 431 cases were enrolled in this study from 46 departments of 35 hospitals. RESULTS: The overall frequency of HHA did not change through the 10-year period for pediatrics but did show an increasing tendency for internal medicine. The overall male to female sex ratio did not show sex predominance (1.17:1), but a significant male predominance with a ratio of 1.49:1 was seen for pediatrics while a significant female predominance with a ratio of 1:1.97 was seen forinternal medicine. Of the total cases, 74.2% (282/431) were diagnosed before the age of 15 years. The etiologies of HHA were classified as red cell membrane defects, hemoglobinopathies, red cell enzyme deficiencies and unknown causes. There were 382 cases (88.6%) of red cell membrane defects with 376 cases (87.2%) of hereditary spherocytosis and 6 cases (1.4%) of hereditary elliptocytosis, 20 cases (4.6%) of hemoglobinopathies with 18 cases (4.2%) of beta-thalassemia, a case (0.2%) of alpha-thalassemia and a case (0.2%) of Hemoglobin Madrid, 7 cases (1.6%) of red cell enzyme deficiencies with 5 cases (1.2%) of glucose-6- phosphate dehydrogenase (G-6-PD) deficiency, a case (0.2%) of pyruvate kinase (PK) deficiency and a case (0.2%) of enolase deficiency, and 22 cases (5.1%) of unknown causes. The most common chief complaint in pediatric patients was pallor and that in adult patients was jaundice. In the red cell membrane defect group of patients, the level of hemoglobin was significantly higher than in adult patients. The mean corpuscular volume, mean corpuscular hemoglobin, corrected reticulocyte count, total and indirect bilirubin level and lactate dehydrogenase levels in the hemoglobinopathy group of patients were significantly lower than the values in the red cell membrane defect group of patients. The mean concentration of G-6-PD was 0.8+/-0.7U/1012RBC in the G-6-PD deficient patients, PK was 1.7U/1010 RBC in the PK deficient patient, and the level of enolase was 0.04U/g of Hb in the enolase deficient patient. CONCLUSION: The most prevalent cause of HHA in Korea during 1997 to 2006 was hereditary spherocytosis, but HHA by other causes such as hemoglobinopathy and red cell enzyme deficiency gradually increased with the development of molecular diagnostic methods and increasing general interest. However, the etiologies of HHA need to be pursued further in 5.1% of the patients. An systematic standard diagnostic approach is needed in a nationwide prospective study for correct diagnoses and appropriate management of HHA.
Adult ; alpha-Thalassemia ; Anemia, Hemolytic, Congenital* ; beta-Thalassemia ; Bilirubin ; Cell Membrane ; Diagnosis ; Elliptocytosis, Hereditary ; Erythrocyte Indices ; Female ; Hemoglobinopathies ; Humans ; Internal Medicine ; Jaundice ; Korea* ; L-Lactate Dehydrogenase ; Male ; Oxidoreductases ; Pallor ; Pathology, Molecular ; Pediatrics ; Phosphopyruvate Hydratase ; Prevalence ; Pyruvate Kinase ; Reticulocyte Count ; Retrospective Studies* ; Sex Ratio ; Surveys and Questionnaires

PURPOSE: Childhood acute immune thrombocytopenic purpura (ITP) is a benign hematologic disease. Therapy does not affect the natural history of the illness. We evaluated the clinical and laboratory findings, treatment and prognosis of childhood acute ITP in Korea through a retrospective multicenter study. METHODS: We analyzed retrospectively the data of 1, 829 children with acute ITP through survey of 33 hospitals among 43 hospitals in Korea from Sep. 1992 to Aug. 2001. RESULTS: Male to female ratio was 1.3: 1 and the median age at the diagnosis of ITP was 2.9 (0.1 17) years. Median duration of follow up was 6 months. One hundred and forty nine cases of the total 1, 829 patients (8.1%) received no treatment. The initial median platelet count of the non-treated group was 42, 500/mm3. Among the 861 cases who were followed up over 6 months, 315 cases (36.6%) progressed into chronic ITP. Associated with this high rate of chronicity of childhood acute ITP patients in Korea, we must consider the fact that acute ITP patients with fast improvement in the first episode tend not to follow up. Considering that fact, the rate of chronicity becomes 17.2% of the 1, 829 acute ITP patients. The treated group used many kinds of treatment methods. Intravenous immunoglobulins (IVIG) with or without prednisolone (PD) (67.5%) were the most commonly used regimens. In the group treated with IVIG alone, the platelet count began to rise above 50, 000/mm3 at 2.6 days, 100, 000/mm3 at 3.7 days and 150, 000/mm3 at 4.9 days. Four hundred and twenty two cases of the 1, 686 (25.0%) cases followed up after first episode of ITP relapsed. The relapse rate was significantly higher in older patients and in girls than in younger patients and in boys (P< 0.05). The chronicity of ITP statistically increased with age (P< 0.05) and that was the only valuable factor. CONCLUSION: Despite the fact that childhood acute ITP is a pretty common disaese, there is no agreement on the best treatment method for this disease. The establishment of Korean treatment guideline of childhood acute ITP, based on an analysis of multicenters, seems to be needed.
Child ; Diagnosis ; Female ; Follow-Up Studies ; Hematologic Diseases ; Humans ; Immunoglobulins, Intravenous ; Korea* ; Male ; Natural History ; Platelet Count ; Prednisolone ; Prognosis ; Purpura, Thrombocytopenic, Idiopathic* ; Recurrence ; Retrospective Studies