Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0242429 (sore throat)
 2,760 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features of the sickle syndromes do not appear until after the sixth month of life, at which time most of the HbF has been replaced by HbS. Thrombo-embolic complications, retinopathy and renal papillary necrosis are more frequent in HbSC disease than in other sickle cell syndromes. First presentation of HbSC disease after the second decade is considered late in this environment. A 25 year-old Nigerian female patient is hereby presented with renal papillary necrosis as first presentation of HbSC disease. The patient presented with a sudden onset of total haematuria without history suggestive of urinary tract infection, trauma, instrumentation and significant analgesic consumption. No history of usage of herbal remedies, diabetes mellitus, sore throat, abdominal pains, skin rashes or joint pains. Physical examination did not show any characteristic habitus or findings. Findings on intravenous urography suggested renal papillary necrosis.
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PMID:Renal papillary necrosis as first presentation of a Nigerian sickle cell patient. 1240 47

BACKGROUND Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production leading to inflammation in multiple organs; it commonly affects young women in their child-bearing years. Clinical manifestations are diverse and range from mild arthritis to diffuse alveolar hemorrhage (DAH). DAH is a rare and devastating complication of SLE that carries a mortality rate of up to 50%, despite aggressive therapy. CASE REPORT A 21-year-old primigravida at 16 weeks gestation presents with a productive cough, rash, sore throat, and high-grade fever. Chest x-ray suggested multifocal pneumonia. Patient deteriorated despite antibiotics and intravenous (IV) fluids. She developed worsening anemia, leukopenia, and thrombocytopenia. Autoimmune workup was positive for Coombs, antinuclear antibody, anti-smith antibody, and hypocomplementemia. Skin biopsy was consistent with SLE. SLE vasculitis was suspected. She required mechanical intubation for rapid respiratory deterioration, with CT thorax suggesting ARDS. Bronchoscopy was done and confirmed DAH. Her course was further complicated with retinopathy and acute pancreatitis associated with SLE. She was treated with IV steroids, IV cyclophosphamide, and plasmapheresis, with significant clinical improvement and successful extubation. She delivered a healthy baby at 32 weeks gestation. CONCLUSIONS Early recognition and initiation of treatment is critical to survival in DAH and requires a high index of clinical suspicion. Treatment includes high-dose steroids, cyclophosphamide, and plasma exchange. Pregnancy increases the risk of adverse outcome in SLE. Seven cases of DAH in pregnant patients with SLE have been reported. Here, we report a catastrophic presentation of DAH, acute pancreatitis, and retinopathy in a pregnant patient with newly diagnosed SLE.
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PMID:Lupus-Induced Vasculitis and Multiple Organ Dysfunction Syndrome as the First Presentation of Systemic Lupus Erythematosus (SLE) in Pregnancy. 3228 23