Mutación p. RQ92 asociada a amiloidosis / p. RQ92 mutation associated with amyloidosis

La amiloidosis secundaria puede encontrarse en algunas enfermedades autoinflamatorias monogénicas. Presentamos el caso de un varón de 83 años sin antecedentes patológicos de interés. Tras detectarse una anemia ferropénica, se realizó una gastroscopia y la biopsia duodenal evidenció amiloidosis secundaria de tipo AA. El estudio de enfermedades autoinflamatorias reveló la variante heterocigota p.R92Q en el gen TNFRSF1A, siendo negativas las pruebas complementarias para otras causas de amiloidosis. En el síndrome TRAPS la amiloidosis secundaria puede asociarse a mutaciones que afectan a residuos cisteína, no habiéndose evidenciado su asociación con la variante p.R92Q. La amiloidosis secundaria puede estar presente en individuos portadores de la variante p.RQ92, por lo que es importante su diagnóstico para intentar prevenir posibles complicaciones.(AU)

Secondary amyloidosis can be found in some monogenic autoinflammatory diseases. In this study we present an 83-year-old man with no relevant medical history who presented with iron deficiency anaemia. In the study, a gastroscopy was performed with duodenum biopsy showing secondary AA-type amyloidosis. Genetic analyses of monogenic autoinflammatory diseases revealed the heterozygous p.R92Q variant in the TNFRSF1A gene, with negative results in the complementary tests for other causes of amyloidosis. In TRAPS, secondary amyloidosis has usually been associated with mutations affecting cysteine residues, but until now no association has been demonstrated with the p.RQ92 variant. Secondary amyloidosis may be present in carriers of the p.RQ92 variant, therefore it is important to diagnose it to prevent possible complications.(AU)

p.RQ92 mutation associated with amyloidosis. / Mutación p.RQ92 asociada a amiloidosis.

Secondary amyloidosis can be found in some monogenic autoinflammatory diseases. In this study we present an 83-year-old man with no relevant medical history who presented with iron deficiency anaemia. In the study, a gastroscopy was performed with duodenum biopsy showing secondary AA-type amyloidosis. Genetic analyses of monogenic autoinflammatory diseases revealed the heterozygous p.R92Q variant in the TNFRSF1A gene, with negative results in the complementary tests for other causes of amyloidosis. In TRAPS, secondary amyloidosis has usually been associated with mutations affecting cysteine residues, but until now no association has been demonstrated with the p.RQ92 variant. Secondary amyloidosis may be present in carriers of the p.RQ92 variant, therefore it is important to diagnose it to prevent possible complications.

Síndrome tricorinofalángico / Trichorhinophalangeal syndrome

El síndrome tricorinofalángico I (TPRSI) tiene una herencia autosómica dominante, la proporción de casos «de novo» es desconocida1. Se caracteriza por rasgos faciales únicos, nariz de extremo bulboso, surco nasolabial plano y alargado, cabello escaso y de crecimiento lento. Anomalías esqueléticas que incluyen falanges y metacarpianos cortos -braquidactilia-, epífisis en forma de cono, displasia de cadera y estatura baja1-3. Presentamos los casos de una familia con 7 miembros afectos de TRPSI

Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo» cases is unknown1. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature1-3

Trichorhinophalangeal syndrome. / Síndrome tricorinofalángico.

Trichorhinophalangeal syndrome I (TPRSI) has an autosomal dominant inheritance; the proportion of «de novo¼ cases is unknown1. It is characterized by unique facial features, bulbous nose, flat and elongated nasolabial furrow, thin hair and slow growth. Skeletal abnormalities that include short phalanges and metacarpals -brachydactyly-, cone-shaped epiphyses, hip dysplasia and short stature1-3.

Fiebre mediterránea familiar / Familial Mediterrane an fever

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