Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033687 (proteinuria)
 24,015 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin B12 malabsorption in the ileum has been postulated as the underlying cause of the Imerslund-Grasbeck syndrome comprising megaloblastic anemia, proteinuria, and multiple neurological abnormalities. A young Saudi child with spasticity, truncal ataxia, cerebral atrophy, megaloblastic anaemia and proteinuria is described. Replacement therapy with parenteral vitamin B12 resulted in the complete resolution of his neurological findings and brain atrophy.
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PMID:Reversal of severe neurological abnormalities after vitamin B12 replacement in the Imerslund-Grasbeck syndrome. 194 Sep 89

We report on five girls (including monozygotic twins) with a newly recognized disease comprising severe neurologic disturbances, variable hepatomegaly, abnormal subcutaneous fat distribution and skeletal anomalies. The neurologic picture was characterized by moderate to severe psychomotor retardation, alternating internal strabismus , hypotonia, hyporeflexia and ataxia. Biochemical investigations showed a number of abnormalities such as tubular proteinuria, slightly increased serum transaminases, hypoalbuminemia, hypo-beta-lipoproteinemia and decreased serum thyroxine-binding globulin. Moreover there was retinitis pigmentosa, cerebellar hypotrophy and electrophysiologic evidence for a peripheral neuropathy. However, histologic examination of a nerve biopsy in one of the patients failed to show myelin abnormalities. On the other hand, abnormal lamellar inclusions were found in the lysosomes of some Schwann cells and of liver tissue as well. Additional investigations in four patients revealed a deficiency of sialic acid, galactose and N-acetylglucosamine of plasma glycoproteins. Enzymatic analysis of serum suggested a deficiency of an N-acetyl-glucosaminyltransferase. Remarkably, the (healthy) fathers but not the mothers presented the same carbohydrate deficiencies of plasma glycoproteins albeit to a much lesser degree. The mode of hereditary transmission of this disease remains unclear; the possibility of X-linked inheritance is under investigation.
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PMID:[A not-previously described hereditary neurological disease with a deficiency of sialic acid, galactose and N-acetylglucosamine of plasma glycoproteins]. 260 46

Clostridium botulinum type D intoxication was diagnosed as the cause of death of 42 of 67 lactating cows in a southeast Texas dairy herd over an 11-day period. By necessity, the diagnosis was based on clinicopathologic findings, as the toxin could not, by standard laboratory tests, be demonstrated in affected cattle. The predominant clinical findings were hindlimb weakness/ataxia rapidly progressing to persistent recumbency. Affected cattle were alert until just before death, which occurred without notable agonal movements or respirations after 6 to 72 hours' recumbency. Abnormal laboratory findings included neutrophilic leukocytosis (all affected cattle), proteinuria (most affected cattle), slight elevations of serum aspartate transaminase and low serum inorganic phosphorus (some affected cattle), and patchy areas of hyperemia/congestion of the mucosa in the small intestine (postmortem examination of 3 affected cattle). This report confirms the findings of others with regard to the difficulty of demonstrating the causative toxin in C botulinum type D-intoxicated cattle and presents available information on the clinicopathologic features of this intoxication that may aid in the differentiation of this condition from other causes of down cows.
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PMID:Catastrophic death losses in a dairy herd attributed to type D botulism. 649 May 11

Clinicopathologic findings were retrospectively evaluated in 26 cats and 24 dogs with ethylene glycol intoxication. Common clinical signs were ataxia, depression, vomiting, and hypothermia. Characteristic alterations in the hemogram and serum chemical profile included neutrophilia, lymphopenia, azotemia, hyperphosphatemia, hypocalcemia, hyperglycemia, and decreased whole blood bicarbonate. Common urinalysis findings included isosthenuria, proteinuria, glucosuria, hematuria, calcium oxalate and hippurate crystalluria, and the presence of renal epithelial cells, white blood cells, and granular and cellular casts in the urine sediment. The high death rate (78%) was attributed to delays in presentation, diagnosis, and therapy.
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PMID:Clinicopathologic findings in dogs and cats with ethylene glycol intoxication. 669 34

Plasma cell myelomas in horses have been reported infrequently. Data from 10 cases, 9 from the literature and 1 new case, are used to characterize the disease in the horse. Hot-blooded horses (7/10), specifically Quarter Horses (4/10), were most often affected. Median age at diagnosis was 11 years (range, 3 mo-22 yr) and both male (5) and female horses (5) were represented equally. Clinical findings included weight loss (6/8), anorexia (4/8), fever (4/8), limb edema (4/8), pneumonia (3/8), rear leg paresis/ataxia (3/8), epistaxis (3/8), palpable lymphadenopathy (2/8), and bone pain (2/8). Anemia (8/8) was present routinely, and in three horses, RBCs were macrocytic. Leukopenia (2/8), thrombocytopenia (2/8), and circulating plasma cells (3/8) were variable findings. Except for abnormal protein concentrations and hyponatremia (3), abnormal results from serum biochemical analysis including hypocholesterolemia (1), hypercalcemia (1), and azotemia (1) were reported infrequently. Hyperproteinemia (8/9), hypoalbuminemia (7/9), and hyperglobulinemia (8/9) were characteristic but not invariable findings. Monoclonal proteins (7/7) were detected in the alpha 2, beta, or gamma region by serum electrophoresis. The paraprotein's heavy chain, determined in four horses, was a subclass of IgG. Three horses had decreased concentrations of normal immunoglobulins. Variable proteinuria (trace to 4+) was detected by routine urinalysis in four of six horses. Bence Jones proteinuria was detected in one of five horses (heat precipitation) and monoclonal proteins were detected in two of three electrophoresed urine samples. Three of the horses had lytic bone lesions detected radiographically. Bone marrow aspirates were diagnostic in two of five horses.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Plasma cell myeloma in the horse. A case report and literature review. 833 11

An 11-year-old boy suffered from fever, headache, severe vertigo and unsteady gait. Physical examination showed bilateral vertical nystagmus, mild corneal reflex delay of the right eye and asymmetric facial expression. Laboratory data showed leukopenia, high ESR and normal CSF study. Brain CT showed diffuse brain edema. Electronystagmography showed upbeat nystagmus and central vertigo. EEG revealed diffuse slow wave and mild to moderate cortical dysfunction. MRI of the head showed focal abnormal signal intensity at the ventral portion of the medulla oblongata on both sides. Under suspicion of enteroviral encephalitis, mannitol and IVIG were given. The virological profiles were negative, ANA 1:640 nucleolar type, low complements and proteinuria. Anti-ds DNA was elevated and anti-ribosomal-P antibodies were positive. Under impression of SLE with CNS involvement, betamethasone was given. Fever, nystagmus and ataxia subsided gradually. Steroid was tapered and imuran was added. The following laboratory data were normal. In his past history, the patient was diagnosed Kikuchi disease. The manifestations of SLE were rare initial presentations as vertigo or vertical nystagmus. We present a case with review of literature and conclusion that physicians should keep in mind the possibility of SLE if patients present with unspecific neurological symptoms and concomitant systemic symptoms.
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PMID:Systemic lupus erythematosus with presentation as vertigo and vertical nystagmus: report of one case. 1452 Oct 22

A 5-year-old Shetland Sheepdog was presented with a history of weakness, ataxia, anemia, thrombocytopenia, and occasional seizures. The dog had been treated for 6 months with prednisone for inflammatory bowel disease. A positive titer for Ehrlichia canis was detected 6 months before referral. The initial physical examination revealed a weak, laterally recumbent dog with pale mucous membranes. Neurologic examination revealed multiple neurologic deficits. A complete blood cell count (CBC) revealed normochromic, normocytic, nonregenerative anemia; lymphopenia; thrombocytopenia; and neutrophilic and monocytic leukocytosis. Urinalysis revealed proteinuria, with a specific gravity of 1.045. The dog was unresponsive to treatment and died. At necropsy, there was severe serofibrinous peritonitis and pleuritis, with randomly scattered dark brown necrotic foci present in multiple organs, including liver, spleen, kidney, and pancreatic lymph node. Histologically, there were extensive regions of parenchymal necrosis surrounded by neutrophils admixed with epithelioid macrophages, lymphocytes, and pigmented fungal organisms. Numerous brown, 2 to 6 microm in diameter, septate, branching hyphae, subsequently identified as Ochroconis gallopavum (formerly Dactylaria constricta var. gallopava), were observed.
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PMID:Fatal systemic phaeohyphomycosis caused by Ochroconis gallopavum in a dog (Canis familaris). 1709 56

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by various combinations of myoclonus epilepsy, ataxia, choreoathetosis and dementia. No specific therapy has been established and renal complication is rare. We report two cases of DRPLA with renal complications. Hematuria and proteinuria had gradually progressed for 2 and 13 years in these patients. Renal biopsy findings revealed focal glomerulosclerosis in one case and end-stage kidney disease in the other case. Angiotensin-converting enzyme inhibitor and angiotensin receptor II antagonist were administered to both patients, resulting in improved proteinuria and preserved renal function in one patient, while renal function continued to deteriorate in the other patient. Although renal complication is rare in patients with DRPLA, the presence of renal disease has to be suspected in patients with persistent proteinuria.
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PMID:Renal complications in two patients with dentatorubral-pallidoluysian atrophy. 1726 99

Transcription-coupled repair of endogenous DNA damage appears crucial for the maintenance of the central and peripheral nervous systems. Ercc1 is essential for nucleotide excision repair and is also involved in recombination repair and the repair of interstrand cross-links. We have investigated the neurological phenotype of Ercc1-deficient mice where the liver dysfunction has been corrected by an Ercc1 transgene controlled by a liver-specific promoter. We observed poor coordination, ataxia and loss of visual acuity, but saw no evidence of the anticipated histopathological neurodegeneration, or of abnormal neuromuscular junctions. Instead we observed uraemic encephalopathy, a brain disease resulting from kidney failure. This diagnosis was supported by histopathological signs of kidney disease, as well as proteinuria. When we examined archival sections from neural-specific Ercc1 knockout mice, which showed the same reduced growth and died at the same age as the liver-corrected Ercc1 knockouts, we found no evidence of kidney pathology or encephalopathy. Thus, while some aspects of the Ercc1-deficient phenotype are indicative of functional neurodegeneration, we obtained no structural evidence for this. The structural changes observed in the brains of liver-corrected Ercc1 knockouts appear to be a secondary consequence of kidney failure arising from Ercc1 deficiency.
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PMID:A neurological phenotype in mice with DNA repair gene Ercc1 deficiency. 1822 31

A 40-year-old male developed swallowing difficulties, loss of strength, and imbalance. On admission, the patient exhibited bifacial, extremity weakness, ataxia, impaired sensation, and areflexia. Electrophysiology and nerve biopsy suggested demyelination. Spinal fluid revealed increased protein content. Plasmapheresis showed benefit, but neuropathy relapsed. At second recurrence, urine analysis showed heavy proteinuria. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS). Methylprednisolone and oral cyclophosphamide were given. Long-term steroids and immunoglobulin showed steady benefit. Concurrence of chronic inflammatory demyelinating polyneuropathy and FSGS suggests synergistic cellular and humoral autoimmune mechanisms related to either cross-reactivity within antigenic targets or mimicry between neural and renal epitopes.
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PMID:Coincident chronic inflammatory demyelinating polyneuropathy and focal segmental glomerulosclerosis: a common autoimmunity? 2004 21


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