[Raynaud disease].
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Antibodies, Antinuclear↗
Biomedical subjects
Tom Pettersson
Publications and source records attributed to Tom Pettersson.
Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption.
Selective vitamin B(12) malabsorption or Gräsbeck-Imerslund disease (megaloblastic anemia 1) is frequently accompanied by proteinuria. The malabsorption-proteinuric syndrome of Finnish patients is caused by a defect in the multiligand receptor cubilin. We studied the urinary proteins of control subjects and 13 adult patients with three defined cubilin mutations (FM1, FM2, FM3), all diagnosed during childhood and subsequently observed. The overall kidney function was unimpaired and did not deteriorate with time. The excretion of total protein and albumin, and to lesser extent of transferrin, immunoglobulin light chains, and alpha(1)- and beta(2)-microglobulins, was clearly elevated in 3 patients, mildly elevated in 3, and hardly or not at all increased in the rest. The urinary cobalamin-intrinsic factor receptor was low in 5 patients studied and lowest in the group with clear-cut proteinuria. The proteinuria was not of the classical glomerular or tubular type, but apparently due to the lack of cubilin function needed for tubular reabsorption of some, but not all, proteins of the primary urine.
Adult↗
[At last new light for the treatment of amyloidosis].
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Amyloidosis↗
A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever.
OBJECTIVE: To investigate the presence of TRAPS (tumor necrosis factor receptor-associated periodic syndrome), which is a recently defined, dominantly inherited autoinflammatory syndrome caused by mutations in the tumor necrosis factor receptor superfamily 1A gene (TNFRSF1A, CD120a), in a Finnish family with recurrent fever. METHODS: The TNFRSF1A gene was sequenced in both affected and unaffected family members. Flow cytometry and enzyme-linked immunosorbent assay analyses were used to assess membrane expression and serum levels of the TNFRSF1A protein, respectively. RESULTS: A missense mutation in exon 4, located in the third extracellular domain of TNFRSF1A and resulting in an amino acid substitution (F112I) close to a conserved cysteine, was found in all 4 affected family members and in 1 asymptomatic individual. The mutation was clearly associated with low levels of soluble TNFRSF1A as well as with the clinical symptoms of recurrent fever and abdominal pain. Impaired shedding of TNFRSF1A after phorbol myristate acetate stimulation was detected in blood granulocytes and monocytes from the 3 adult family members with the mutation, but in the child bearing the mutation and showing clinical symptoms of recent onset, the shedding defect was less marked. CONCLUSION: TRAPS should be suspected in any patient who presents with a history of intermittent fever accompanied by unexplained abdominal pain, arthritis, or skin rash, particularly in the presence of a family history of such symptoms. Screening for low serum levels of soluble TNFRSF1A identifies individuals who are likely to have TNFRSF1A mutations.
Adult↗
[New test to diagnose thrombosis tendency].
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Adolescent↗
Roadmap to vasculitis.
Vasculitis is characterized by vessel wall injury caused by an immunologically initiated inflammatory reaction. Vesselwall injuryleads to vascular stenosis, aneurysm, bleeding, thrombosis, embolism, vasospasms and ischemia. The vasculitis is clinically important when the patient has general inflammatory and multifocal symptoms, which progress in episodes and can be explained by these vascular lesions. The clinical manifestations of these depend on the size, localization and number of blood vessels involved. This forms the basis of the current vasculitis classification. It is important to recognize the secondary vasculitides, as their treatment is mainly based on elimination of the triggering factor. In primary vasculitides, immunosuppression alone is the basis of treatment in almost all cases, whereas the management of pseudovasculitis is dependent on its aetiology. In primary care, basic evaluation should be done: patient history, physical examination, basic laboratory tests and other non-invasive tests to verify suspected surrogate findings. After this, patients should be urgently referred to a specialized centre, where the required histological and radiological tests are performed for diagnosis and immunosuppressive and other necessary treatment is initiated.
Adult↗