A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges

Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and though...

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Autores principales:	Clara Pardinhas, Gustavo Santo, Luís Escada, Jorge Rodrigues, Maria Rosário Almeida, Rui Alves, Manuel Salgado
Formato:	article
Lenguaje:	EN
Publicado:	Karger Publishers 2021
Materias:	adenosine deaminase 2 deficiency vasculitis autoinflammatory disease amyloid a amyloidosis kidney injury Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/29719f8a64fd479cacccc55b73d4e92f
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spelling	oai:doaj.org-article:29719f8a64fd479cacccc55b73d4e92f2021-12-02T12:40:23ZA Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges2296-970510.1159/000517141https://doaj.org/article/29719f8a64fd479cacccc55b73d4e92f2021-11-01T00:00:00Zhttps://www.karger.com/Article/FullText/517141https://doaj.org/toc/2296-9705Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and thought to have clinical features of systemic polyarteritis nodosum, which negatively influenced its outcome, since TNF inhibitors seem to have efficacy on the vasculitic phenotype of DADA2. We present a case of a 28-year-old woman with a lifelong unknown syndrome and unique clinical manifestations recently recognized as DADA2. The first manifestation, at 3 months of age, was an episode of facial paralysis during which renovascular hypertension was diagnosed. Later, she developed episodes of prolonged fever, polyarthritis, Raynaud’s phenomenon, gastrointestinal bleeding, and intracerebral hemorrhage. This inflammatory state ultimately led to the development of amyloid A amyloidosis and renal insufficiency.Clara PardinhasGustavo SantoLuís EscadaJorge RodriguesMaria Rosário AlmeidaRui AlvesManuel SalgadoKarger Publishersarticleadenosine deaminase 2 deficiencyvasculitisautoinflammatory diseaseamyloid a amyloidosiskidney injuryDiseases of the genitourinary system. UrologyRC870-923ENCase Reports in Nephrology and Dialysis, Vol 11, Iss 3, Pp 340-347 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	adenosine deaminase 2 deficiency vasculitis autoinflammatory disease amyloid a amyloidosis kidney injury Diseases of the genitourinary system. Urology RC870-923
spellingShingle	adenosine deaminase 2 deficiency vasculitis autoinflammatory disease amyloid a amyloidosis kidney injury Diseases of the genitourinary system. Urology RC870-923 Clara Pardinhas Gustavo Santo Luís Escada Jorge Rodrigues Maria Rosário Almeida Rui Alves Manuel Salgado A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges
description	Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and thought to have clinical features of systemic polyarteritis nodosum, which negatively influenced its outcome, since TNF inhibitors seem to have efficacy on the vasculitic phenotype of DADA2. We present a case of a 28-year-old woman with a lifelong unknown syndrome and unique clinical manifestations recently recognized as DADA2. The first manifestation, at 3 months of age, was an episode of facial paralysis during which renovascular hypertension was diagnosed. Later, she developed episodes of prolonged fever, polyarthritis, Raynaud’s phenomenon, gastrointestinal bleeding, and intracerebral hemorrhage. This inflammatory state ultimately led to the development of amyloid A amyloidosis and renal insufficiency.
format	article
author	Clara Pardinhas Gustavo Santo Luís Escada Jorge Rodrigues Maria Rosário Almeida Rui Alves Manuel Salgado
author_facet	Clara Pardinhas Gustavo Santo Luís Escada Jorge Rodrigues Maria Rosário Almeida Rui Alves Manuel Salgado
author_sort	Clara Pardinhas
title	A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges
title_short	A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges
title_full	A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges
title_fullStr	A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges
title_full_unstemmed	A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges
title_sort	case of deficiency of adenosine deaminase 2: 28 years of diagnostic challenges
publisher	Karger Publishers
publishDate	2021
url	https://doaj.org/article/29719f8a64fd479cacccc55b73d4e92f
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A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges

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