Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Weak or weak intermediate reactions in one-way mixed lymphocyte culture (MLC) were seen between a patient and at least one parent in the families of 6 of 15 patients with severe combined immunodeficiency disease, 3 of 4 patients with Fanconi's anemia, and 3 of 7 patients with congenital neutropenia (CN). In control family material, weak MLC reactions were seen in 1.4 per cent (4 of 285) of individual parent-child and child-parent combinations or in 2.1 per cent (3 of 143) of the total number of parent-child pairs. The increase in frequency of weak MLC reactions seen in the familes of patients with severe combined immunodeficiency disease and Fanconi's anemia occurred most frequently between mother and patient. This finding could be relevant to the pathogenesis of these diseases. In children with CN, the disease seems to be associated with the HLA antigen B12; in addition, two of the patients with CN appear to be homozygous for HLA-D. Because of the relatively frequent compatibility seen in MLC reactions between parents and children with severe combined immunodeficiency disease, Fanconi's anemia, and CN, it is suggested that those parents could be potential donors for bone marrow transplantation.
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PMID:HLA-D compatibility between parent and child: increased occurrence in severe combined immunodeficiency and other hematopoietic diseases. 1 83

In patients with hereditary haematologic diseases risk of repetition of these anomalies in brothers and sisters of probands and their progenies was assessed. In haemiphilia and Wiskott-Aldrich's. thrombocytopenia, both caused by a mutant gene in an X chromosome, prenatal pole determination was consulted in order to have a pregnancy with a male fetus interrupted due to high risk. Dominantly hereditary spherocytosis, eliptocytosis, chronic benign neutropenia are the diseases which do not appear in such a severe form that ceasation of further pregnancies should be consulted, instead, an early postnatal diagnosis is suggested to the families with increased risk of these anomalies. In the recessive hereditary beta thalassemia and in Fanconi's anemia in which prenatal diagnosis can not be made for the time being, level of risk for the further children is told to the parents after the child has been born. The parents are then left to decide whether to take a risk and have other children who might suffer of these severe haemolitic diseases. In the haemolitic diseases with often occurrence in certain families, but in which the manner of inheritance is not clear, as for example in the Kasebach-Meritt's syndrome, risk for the following children is uncertainly increased so that the genetic counsel is uncertain and unprecise. In the hereditary haemolitic diseases which appear sporadically, either of known or unknown etiology, such as congenital teleangiectasis of capillary vessels or Sturge-Weber's syndrome with severe vascular and nerval disorders, the parents are stimulated to further pregnancies as they are not followed by increased risk.
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PMID:[Genetic counseling in hematologic diseases]. 61 9

In order to better understand the patho-physiologic role of granulocyte colony-stimulating factor (G-CSF), we estimated its serum levels in healthy persons and patients with various disorders, using a newly developed enzyme immunoassay (Motojima et al). In 49 of 56 normal healthy persons (88%), the levels were beneath the sensitivity of the assay (less than 30 pg/mL), while in the remaining seven healthy persons, the levels ranged from 33 to 163 pg/mL. On the other hand, nine of 11 patients (82%) with idiopathic aplastic anemia (AA), one patient with Fanconi's anemia, six of 12 patients (50%) with myelodysplastic syndrome (MDS), five of 12 patients (42%) with acute leukemia without any blast cells in the blood (M4: one, M5: one, L1: one, and L2: two), six of 18 patients (33%) with chronic myeloid leukemia (CML), one of two patients with chronic lymphoid leukemia (CLL), two of four patients with lung cancer, one patient with cyclic neutropenia, two of seven patients with malignant lymphoma, and four patients with acute infection had G-CSF levels ranging from 46 pg/mL to greater than 2,000 pg/mL. Interestingly, a reverse correlation between blood neutrophil count and serum G-CSF level was clearly demonstrated for aplastic anemia (r = -.8169, P less than .01). Moreover, it was found that the G-CSF level rose during the neutropenic phase of cyclic neutropenia and after chemotherapy or bone marrow transplantation (BMT) in three patients with leukemia; also high G-CSF levels were positively correlated to blood neutrophil counts in some cases of infectious disorders and lung cancer. The cellular sources and the mechanisms for production and secretion of circulating G-CSF were not investigated in this study, but the data presented here strongly indicate that G-CSF plays an important role as a circulating neutrophilopoietin.
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PMID:Serum granulocyte colony-stimulating factor levels in healthy volunteers and patients with various disorders as estimated by enzyme immunoassay. 246 34

In a family of 5 boys and 6 girls, 3 brothers have clinical dyskeratosis congenita. Teeth from 2 of the patients were taurodent , and mineral density of the enamel was significantly different from normal. The haematopoietic marrow was hypocellular and there was striking prominence of plasma cells having normal morphology; no granulomata were demonstrated. The decreased erythroid precursors in the marrow correlated with quantitatively reduced erythropoiesis demonstrated on ferrokinetic studies. Recurrent infections occurred but could not be related to neutropenia, and granulocytes and monocytes retained normal function. No abnormality was demonstrated in humoral or cellular immune mechanisms. While superficially similar, dyskeratosis congenita and Fanconi's anaemia are genetically distinct, being X-linked in the former and inherited as an autosomal recessive in the latter.
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PMID:Dyskeratosis congenita. Haematologic, cytogenetic, and dermatologic studies. 653 99

Congenital dyskeratosis is a rare disease involving ectodermal derived tissues and presenting bone-marrow hypoplasia as a complication in one half of the cases. A 25 year-old male is presented who at age 12 showed retarded development with shortness of the 4th finger of his left hand, anomalous implantation of teeth, hyperpigmented skin and hyperkeratosis on his knees, hands and feet. He had anaemia (Hb 92 g/L) and leucopenia (2.7 x 10(9)/L) with neutropenia (0.34 x 10(9)/L) and his bone-marrow showed hypoplasia, especially affecting granulopoiesis. The cytogenetic studies were normal. No treatment was given, and a haematological re-evaluation performed 13 years later showed no significant quantitative changes. Decreased number of myeloid and megakaryocytic colonies were present in the bone-marrow cultures. The clinical and laboratory characteristics of the bone-marrow aplasia associated to congenital dyskeratosis are commented, stress being laid on its differentiation from other constitutional forms of aplasia, especially Fanconi's anaemia.
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PMID:[Marrow hypoplasia associated with congenital dyskeratosis. Case report]. 794 52

Fanconi's anaemia (FA) is the most common of the constitutional aplastic anaemias; the mechanisms leading to aplasia in this disease are poorly understood. A number of mechanisms have been implicated in the pathogenesis of acquired aplastic anaemia (AA), including a stem cell defect, an immune reaction against haematopoietic cells or defective function of the marrow microenvironment. To investigate the pathophysiology of this disorder we have performed bone marrow colony forming unit-granulocyte macrophage (CFU-GM) assays and long-term bone marrow culture (LTC) in 22 cases of FA compared with 17 cases of acquired AA. Defective in vitro haematopoiesis was observed in all patients with FA, including several cases with normal peripheral blood counts. The mean CFU-GM value for the FA group was approximately 15 times lower than for the normal group. A correlation was seen between CFU-GM and the severity of neutropenia in FA. In LTC an adherent layer formed in all cases of FA; despite this fact CFU-GM were either not generated or rapidly fell to zero in all patients. LTC is a sensitive method for the detection of impaired granulopoiesis in FA and reveals defects in all patients with this disease.
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PMID:Long-term bone marrow culture in Fanconi's anaemia. 851 73

Inherited bone marrow failure syndromes (BMFs) comprise at least one-fourth of children with aplastic anemia, and perhaps up to 10% of adults. The most common syndrome is Fanconi's anemia (FA), with more than 1,000 reported cases. FA is autosomal recessive, with birth defects in approximately 75% of patients. It is a DNA repair syndrome, diagnosed by finding chromosomal aberrations in cells treated with clastogenic agents. The major problems in FA are, in order, aplastic anemia, leukemia, and other cancers. There are at least five complementation groups; the gene for Group C has been cloned. Carrier identification and gene therapy are beginning in families at risk for FAC mutations. Dyskeratosis congenita (DC) is primarily X-linked (at Xq28), with autosomal recessive and dominant cases as well. Patients classically have reticulated hyperpigmented skin, dystrophic nails, and mucous membrane leukoplakia. approximately 50% develop aplastic anemia, sometimes prior to the DC phenotype, and approximately 10% develop cancer. Shwachman-Diamond syndrome consists of exocrine pancreatic insufficiency with neutropenia; approximately 25% develop aplastic anemia and 5%-10% develop leukemia. Amegakaryocytic thrombocytopenia presents in infancy, and often evolves into aplastic anemia and/or leukemia. Single cytopenias include Diamond-Blackfan anemia (DBA), which is inherited pure red cell aplasia; transient erythroblastopenia of childhood; Kostmann's syndrome (KS) or infantile genetic agranulocytosis, and thrombocytopenia with absent radii in which there is neonatal thrombocytopenia and absent radii. DBA and KS, particularly the latter treated with G-CSF, may develop leukemia, and solid tumors have been reported in DBA. Treatment for the various BMFs includes bone marrow transplantation, androgens, and hematopoietic cytokines such as G-CSF. These inherited syndromes thus include various combinations of marrow failure and premalignancy.
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PMID:Aplastic Anemia, Pediatric Aspects. 1038 17

Fanconi's anaemia (FA) is an autosomal recessive disorder that is clinically characterized by aplastic anaemia, congenital malformations of the renal, cardiac, skeletal and skin structures, and an increased predisposition to malignancies. Patients with FA often present with bleeding and infection, which are symptoms related to thrombocytopenia and neutropenia. There are few reports of the oral manifestations of FA. We describe oral aphthous ulcerations in two siblings with FA. There was a rapid improvement and healing of ulcers after blood transfusions and increased haemoglobin levels. This may support the role of severe anaemia in oral ulcerations.
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PMID:Recurrent aphthous ulcers in Fanconi's anaemia: a case report. 1513 58

Alternaria spp. have emerged as opportunistic pathogens particularly in immunosuppressed patients, such as bone marrow transplant recipients. The authors present a case of Alternaria alternata in a patient with Fanconi's anemia, who received antifungal prophylaxis with posaconazole after an unrelated bone marrow transplantation, followed by empirical antifungal treatment with caspofungin when persistent fever emerged until cutaneous lesions eventually appeared. At that time there were clinical reasons to assume that the patient had an infection with an emerging fungus. This consideration triggered a change of the antifungal therapy from caspofungin to liposomal amphotericin B. After collecting sufficient evidence for the presence of an invasive fungal infection by A. alternata and given the severity of neutropenia and other immunosuppression, oral posaconazole was added to liposomal amphotericin B. The course of disease in this case suggests a possibly synergistic interaction between liposomal amphotericin B and posaconazole when administered simultaneously to treat an invasive systemic infection by Alternaria spp. in immunocompromised patients.
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PMID:Alternaria alternata invasive fungal infection in a patient with Fanconi's anemia after an unrelated bone marrow transplant. 2338 82

Medical records of 30 children with renal tumor diagnosed at Siriraj Hospital during 1996 to 2007 were reviewed. Mean age at diagnosis was 36 months; male to female ratio was 1.7:1. Clinical manifestations included abdominal mass (96.7%), hypertension (40.0%), abdominal pain (36.7%), hematuria (26.7%), postrenal obstruction (16.7%), and proteinuria (13.3%). Eight patients had Denys-Drash malformations, WAGR, Dandy-Walker malformation, or genitourinary anomalies. Twenty-seven patients (90%) had Wilms tumor. Sixteen patients were stage 3 or more at diagnosis. Rhabdoid tumor was found in 3 patients. All patients received chemotherapy, 13 patients also received radiation therapy. Acute complications included febrile neutropenia (44.4%), hypokalemia (37.0%), hyponatremia (29.6%), Fanconi syndrome (11.1%), urinary tract Infection (10.0%), and acute renal failure (7.4%). Mean follow-up time was 57.2 months. Ten patients died from progressive disease. Five-year patient survival was 69.7%. Two patients had chronic kidney disease. One of these had Denys-Drash malformations. Both patients received ifosfamide-carboplatin-etoposide protocol and abdominal radiation. Antihypertensive medications were needed in 9 patients for a mean duration of 164 days. None had persistent proteinuria or hematuria. No difference was found among mean estimated glomerular filtration rate at diagnosis, 1 year after treatment, and at last follow-up. Long-term follow-up, especially renal function, is recommended.
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PMID:Long-term outcome in pediatric renal tumor survivors: experience of a single center. 2415 88


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