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verworven Fanconi-syndroom geassocieerd met lichte ketens van monoklonale immunoglobulinen (aandoening)
verworven Fanconi-syndroom geassocieerd met lichte ketens van monoklonale immunoglobulinen
verworven syndroom van Fanconi geassocieerd met lichte ketens van monoklonale immunoglobulinen
Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
Acquired Fanconi syndrome secondary to monoclonal gammopathy
In adults over 50 years of age, Fanconi syndrome is frequently related to the urinary secretion of a monoclonal immunoglobulin (Ig) light chain (LC), almost always of the kappa isotype. Prevalence is unknown but around 100 cases have been described in the literature so far. Onset occurs during adulthood: bone pain related to osteomalacia secondary to hypophosphatemia and progressive chronic renal failure are the usual manifestations. These manifestations may precede the diagnosis of a slowly progressive plasma cell disorder by several years. In most cases, the monoclonal kappa light chain is restricted to the V kappa-1 subgroup and bears non-polar or hydrophobic mutations in the variable domain, which induce resistance to cathepsin proteolysis in the proximal tubular cells and promote crystallization of the variable domain within the endolysosomal compartment.
Id724099000
StatusPrimitive
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetE72.0
RuleTRUE
AdviceALWAYS E72.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified