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)

SCN is characterized by neutropenia, life-threatening infections, and progression to myelodysplastic syndrome/acute myelogenous leukemia. The only curative option is SCT, but few reports using UCB as a stem cell source exist. Here, we report two SCN patients transplanted with UCB. Patient 1 was transplanted at seven yr of age due to increasingly large injections of G-CSF (>100 microg/kg/day) and the risk of developing leukemia. He engrafted promptly and is clinically well and immune reconstituted >2 yr post-transplant. Patient 2 underwent UCB SCT at nine months of age for recurrent severe infections, despite high doses of G-CSF. He rejected his first graft, having 100% host cells on day +35, and immediately underwent a second UCB SCT. He engrafted but experienced late graft rejection six months after the second transplant. He received a third UCB SCT following a more immunosuppressive conditioning regimen. His course was complicated by HHV-6 viremia and gut GVHD, but he is now clinically well and has 99% donor engraftment >20 months post-transplant. We conclude that UCB is an acceptable stem cell source for SCN patients, but conditioning must be adequately immunosuppressive to ensure engraftment in patients without prior chemotherapy.
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PMID:Unrelated cord blood transplantation for severe congenital neutropenia: report of two cases with very different transplant courses. 1843 8

A 30-year-old man was diagnosed with severe aplastic anemia in 1997. He received mPSL pulse therapy and was treated with ATG and cyclosporine, resulting in remission and exacerbation; however, his pancytopenia gradually progressed and transfusions were required. He was referred to our hospital for further treatment by allogeneic bone marrow transplantation (allo-BMT). Before allo-BMT, he suffered febrile neutropenia. His white blood cell count was <100/microl despite daily administration of G-CSF. Although we detected asymptomatic stones in his gallbladder (GB) and common bile duct (CBD) by a screening test before allo-BMT, we decided to remove the stones after BMT because of his severe neutropenia. He underwent allo-BMT from an HLA-matched unrelated donor after conditioning with a reduced-intensity regimen. On day 9 after BMT, he developed acute obstructive suppurative cholangitis. Germ-free care was transiently stopped and endoscopic biliary drainage (EBD) was performed for the stones in the common bile duct. Engraftment of WBC was confirmed on day 24, and the stones were removed using endoscopic sphincterotomy on day 57 after confirmation of platelet recovery. We could perform EBD safely before hematological engraftment. A strategy for the management of asymptomatic stones of the GB and CBD has not yet been established. The possibility of removing stones before BMT should therefore be considered. Consideration should also be given to the possibility of improving acute obstructive suppurative cholangitis by EBD and antibiotics before hematological engraftment in such cases when stones cannot be removed before BMT.
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PMID:Endoscopic biliary drainage for choledocholithiasis in a patient with aplastic anemia before hematological engraftment after allogeneic transplantation. 1948 3

A 56-year-old man with bilateral hearing impairment who had taken betamethasone combined with dexchlorpheniramine maleate for 7 years to treat chronic sinusitis developed a dry cough after discontinuing this medication and was diagnosed with asthma, and after which he sensed impaired bilateral hearing. Based on the presence of numerous eosinophilic leukocytes in otorrehea, we made a diagnosis of eosinophilic otitis media, and he was prescribed predonisolone to control the asthma, but discontinued it on his own. He then developed fever, maniphalanx stiffness, testicular pain, and facial hyperesthesia, eruptions, and the lower-limb numbness. The detection of a positive serum reaction for MPO-ANCA and evaluated of eosinophilic leukocyte levels yielded a definitive diagnosis of CSS, for which the man was treated with predonisolone and cyclophosphamide. His symptoms were relieved, even though the onset of neutropenia, necessitated the discontinuation of cyclophosphamade administration.
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PMID:[A case of Churg-Strauss syndrome following corticosteroid withdrawal]. 1961 May 91

Proton pump inhibitors (PPIs) are widely used drugs in the treatment or prophylaxis of peptic ulcer and gastro-oesophageal reflux disease. In addition to their well documented efficacy, these drugs are generally well tolerated with only rare serious adverse effects having been reported. Neutropenia and agranulocytosis are rare adverse events associated with PPI treatment. All previously published cases of isolated neutropenia have involved omeprazole, but leukopenia is labelled as a possible adverse effect in the summary of product characteristics of the other PPIs. In this report, we describe a case of omeprazole-induced neutropenia with further recurrence upon pantoprazole treatment. A 60-year-old man with chronic alcoholism and a medical history of pulmonary tuberculosis, untreated chronic C hepatitis, peripheral artery disease, chronic obstructive pulmonary disease and stable stage 3 chronic kidney disease was admitted with dehydration and malnutrition. Omeprazole 20 mg/day and sucralfate 3 g/day were started for diffuse gastritis on gastric endoscopy. While the patient's blood cell count had been within the normal range before this treatment, routine laboratory examination revealed moderate neutropenia (0.9 x 109/L) after 9 days of treatment. His blood cell count returned to the normal range after discontinuation of omeprazole and no further episodes of neutropenia were noted in the following months. One year later, oesophago-gastroscopy revealed a hiatal hernia with an extensive zone of Barrett's oesophagus. As the lesions did not improve with ranitidine and sucralfate therapy, the patient was started on pantoprazole 40 mg/day. His initial white blood cell count was normal, but moderate neutropenia (0.8 x 109/L) was again noted after only 2 days of pantoprazole treatment. Complete and further stable normalization was obtained within 3 days after replacement of pantoprazole with ranitidine. Toxic and immune-mediated mechanisms are the two commonly proposed mechanisms to explain the pathogenesis of drug-induced neutropenia. This report suggests that PPI-induced neutropenia is immune mediated and argues for a possible cross-reactivity between the two PPIs, as has already been described for PPI-induced hypersensitivity reactions. The report also indicates that patients with a history of neutropenia induced by one PPI may be at risk of recurrence of neutropenia if given another member of this drug class. In these patients, close haematological monitoring is proposed.
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PMID:Proton pump inhibitor-induced neutropenia: possible cross-reactivity between omeprazole and pantoprazole. 2058 18

Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle biopsy was typical for CNM with additional "necklace" fibers. Sequencing of DNM2 revealed a known heterozygous c.1269C>T (p.Arg369Trp) mutation. Necklace fibers were considered as a pathological hallmark of late onset X-linked CNM due to mutations in MTM1 but have not been observed in DNM2-CNM. The findings broaden the features of DNM2-myopathy.
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PMID:Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. 2124 64

A man in his 40s with a past history of neutropenia during zonisamide administration developed agranulocytosis 1 month after adding on topiramate to treat intractable partial epilepsy. His concurrent medication included phenytoin and acetazolamide. His white blood cell count recovered 5 days after discontinuation of topiramate. Topiramate is a sulfamate whose mechanism of antiepileptic activity is considered to include inhibition of carbonic anhydrase. Topiramate has a potential risk for haematopoietic adverse events; such events are rare and are related to immuno-allergic reaction or toxic effect of sulfonamides and sulfamates, including carbonic anhydrase inhibitors. Because this class of drugs is commonly used as an anti-glaucoma or diuretic agent, particular attention should be paid when initiating topiramate to a patient with a history of sulfonamide or sulfamate induced agranulocytosis, or when co-administrating topiramate with sulfonamides and sulfamates including carbonic anhydrase inhibitors.
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PMID:Topiramate induced agranulocytosis. 2168 80

We report a 61-year-old man with slowly progressive gait disturbance and paresthesia in the lower extremities following a total gastrectomy for gastric cancer 23 years previously. The patient presented with hyperreflexia, peripheral sensory neuropathy, and cerebellar ataxia. Magnetic resonance imaging showed atrophy of the cerebellum, and electrophysiological findings suggested the presence of disorder in both sides of the pyramidal tract, dorsal column, peripheral nerves, and optic nerve. Laboratory findings revealed anemia, neutropenia, and a remarkably low serum copper level (10 microg/dl; normal: 68-128). His serum vitamin E was slightly low and his serum vitamin B12 was within the normal limits. After administering an oral copper supplement, his symptoms improved with normalization of the serum copper level. We need to pay attention to myeloneuropathy caused by copper deficiency if the patient has a past history of total gastrectomy.
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PMID:[Peripheral neuropathy, myelopathy, cerebellar ataxia, and subclinical optic neuropathy associated with copper deficiency occurring 23 years after total gastrectomy]. 2173 33

A 71-year-old man presented to our dermatological clinic with a 3-month history of a wound on his leg. He complained of weakness for the past few months. On his dermatological examination he had a 3x3-cm necrotic ulcer on his left tibia (Figure 1). On physical examination, there was 1 x 1-cm axillary lymphadenopathy. There was no other lymph node enlargement, hepatosplenomegaly, or gingival hypertrophy. Peripheral blood results showed 2.4x103/mm3 leukocytes (normal range 4-11 x 103/mm3) with 66% neutrophils. The hemoglobin value was 10.1 g/dL (13-18 g/dL), and the platelet count was 63x103/mm3 (150-440 x 103/mm3). No blasts were detected in a peripheral blood smear. His lactate dehydrogenase level was 567 U/L (240-480 U/L). All other results of blood chemistry were within normal limits. Punch biopsy of the skin lesion showed ulceration and dense dermal acute and chronic inflammation. There was a superficial and deep perivascular and periadnexal infiltrate of neoplastic cells composed of relatively abundant eosinophilic cytoplasm and large nuclei with blastic chromatin and occasional small nucleoli (Figure 2). Mitotic figures were prominent. Immunohistochemical stains were performed, and the neoplastic cells were CD3, CD20, CD138, and S100 protein negative. Myeloperoxidase and CD68 were positive. The histopathological findings were consistent with leukemic infiltration. Examination of bone marrow biopsy revealed that the blastic cells constituted more than 20% of the bone marrow cellularity. Cytogenetic analysis of bone marrow aspiration with fluorescence in situ hybridization was negative for inversion 16, t(8;21) and t(15;7). Histochemical stains for myeloperoxidase, sudan black, periodic acid-Schiff, and alpha naphthyl acetate were also negative. Blastic cells were DR, CD13, CD117, and CD34 positive and CD5, CD7, CD10, CD14, CD19, CD20, CD33, CD41, CD56, CD64, and CD79 negative according to flow cytometry immunophenotyping. Blastic cells were 35% in the bone marrow. Based on the findings of bone marrow examination, the patient was diagnosed as having acute myeloblastic leukeamia (AML) with minimal differentiation (subtype MO) according to French-American-British and World Health Organization classification. The examination of abdominal ultrasonography and thorocic and abominal computed tomography revealed no metastases. The patient was treated with chemotherapy that consisted of cytarabin and daunorubicin. After chemotherapy, the lesion regressed. One month after chemotherapy, the patient presented to the hospital with a complaint of fever. He was diagnosed with febrile neutropenia. He died of cardiac failure 12 months after appearance of skin infiltration.
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PMID:Necrotic ulcer: a manifestation of leukemia cutis. 2254 28

CNS aspergillosis is often missed in the setting of advanced HIV infection, especially in the absence of presumed risk factors such as neutropenia or prior steroid treatment. We describe the postmortem evaluation of the brain of a patient with AIDS that developed progressive neurologic deterioration. Sequence brain MRIs, CSF analysis, and multiple presumed treatments failed to reveal the possible causes or improve his ongoing condition. His brain autopsy showed numerous abscesses with septated hyphae consistent with CNS angioinvasive aspergillosis.
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PMID:47 year-old man with HIV infection and hemiplegia. 2269 82

We report an Omani family in whom the propositus had a rare coexistence of sickle cell disease and severe congenital neutropenia associated with a mutation in ELANE. In contrast to his siblings with sickle cell disease, the severity of HbSS-associated complications such as painful crises and acute chest syndrome was significantly reduced. His course of the disease had markedly worsened after initiating G-CSF therapy. These clinical observations suggest that neutropenia may ameliorate inflammatory responses and thus display a modulating factor with respect to the clinical course of sickle cell disease.
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PMID:Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. 2275 17


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