Universität zu Köln

Taylan, Christina, Wenzel, Andrea, Erger, Florian ORCID: 0000-0002-2768-1702, Goebel, Heike, Weber, Lutz T. and Beck, Bodo B. (2020). Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease. Front. Pediatr., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

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Abstract

Background: Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is characterized by autoimmunity, chronic diarrhea, and immunodeficiency. Minor renal manifestations have been found in a few patients, but kidney disease has not been systematically studied and may remain underdiagnosed in this highly variable entity. Results: Our patient initially presented with pancytopenia, enteropathy, hypogammaglobulinemia, and failure to thrive at the age of 15 months. Chronic kidney disease was diagnosed at 6 years. A renal biopsy taken at 11 years of age showed interstitial nephritis. The patient progressed rapidly to end-stage renal disease (ESRD) and underwent kidney transplantation at the age of 12 years. Bronchiolitis obliterans, post-transplant lymphoproliferative disease (PTLD), and chronic rejection complicated the post-transplant management. Graft loss required reinstitution of hemodialysis within 3 years. After negative results of different targeted sequencing strategies, exome sequencing identified a homozygous nonsense mutation (p.Q1010*) in the LRBA gene more than 21 years after the patient's initial presentation. Conclusions: We report here the development of ESRD and long-term follow-up in a patient with LRBA deficiency. A molecular diagnosis in rare (kidney) disease like LRBA deficiency bears many advantages over a descriptive diagnosis. A precise diagnosis may result in improved (symptomatic) treatment and allows differentiating treatment- and procedure-related complications from manifestations of the primary disease.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Taylan, Christina UNSPECIFIED UNSPECIFIED UNSPECIFIED Wenzel, Andrea UNSPECIFIED UNSPECIFIED UNSPECIFIED Erger, Florian UNSPECIFIED orcid.org/0000-0002-2768-1702 UNSPECIFIED Goebel, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-341178
DOI:	10.3389/fped.2020.00042
Journal or Publication Title:	Front. Pediatr.
Volume:	8
Date:	2020
Publisher:	FRONTIERS MEDIA SA
Place of Publication:	LAUSANNE
ISSN:	2296-2360
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TUBULOINTERSTITIAL NEPHRITIS; IMMUNE DYSREGULATION; MUTATIONS Multiple languages Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/34117