Renal Amyloidosis in a Patient with X-linked Agammaglobulinemia (Bruton’s Disease) and Bronchiectasis

Gonzalo-Garijo, Ángela; Sánchez-Vega, S.; Pérez-Calderón, Remedios; Pérez-Rangel, Inmaculada; Corrales-Vargas, Silvia Irene; Mera, J.; Robles, R

doi:10.1007/s10875-013-9972-4

Cited by 7 publications

(5 citation statements)

References 9 publications

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“…Gonzalo‐Garijo et al . reported a patient with BTK deficiency who developed renal amyloidosis and could not maintain trough serum IgG, but the present patient's urinalysis was normal. Therefore, we investigated the possibility of protein leakage from the intestinal membrane and abnormal FcRn function.…”

Section: Discussioncontrasting

confidence: 66%

“…This clinical course led us to suspect other causes for the loss of IgG, such as a nephritic syndrome or protein-losing gastroenteropathy. Gonzalo-Garijo et al reported a patient with BTK deficiency who developed renal amyloidosis and could not maintain trough serum IgG, 5 but Fig. 1 Endoscopy of the intestine (from the rectum to the ileocecal region) was nearly normal, but in some areas the intestine appeared slightly fragile and susceptible to bleeding.…”

Section: Discussionmentioning

confidence: 99%

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Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency

Yamazaki

Ohtsuka

Yokokura

et al. 2016

Pediatrics International

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Eosinophilic gastrointestinal diseases (EGID) are relatively rare diseases characterized by eosinophilic infiltration of the gastrointestinal tract resulting in various gastrointestinal symptoms. EGID are often caused by allergic reactions or systemic eosinophilic disorders, but their comorbidity with Bruton's tyrosine kinase (BTK) deficiency has not been previously documented. Here, we report a case of eosinophilic gastroenteritis (EG) in a patient with BTK deficiency. Despite adequate replacement immunoglobulin (Ig) therapy, trough serum IgG was not maintained. To identify the underlying cause of the low trough level and chronic diarrhea, the intestine was investigated on endoscopy. We also screened for the variable number of tandem repeat polymorphism in FCGRT. Genetic analysis could not explain the low trough IgG, but endoscopy indicated eosinophilic enterocolitis. EG may be an important differential diagnosis when primary immunodeficiency patients have chronic diarrhea or continued low serum IgG.

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Section: Discussioncontrasting

confidence: 66%

Section: Discussionmentioning

confidence: 99%

Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency

Yamazaki

Ohtsuka

Yokokura

et al. 2016

Pediatrics International

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“…The search yielded ninety citations, of which idiopathic bronchiectasis, cystic fibrosis, bronchiectasis in immunodeficiencies and Kartagener's syndrome were identified as etiologies of secondary amyloidosis. [ 9 10 11 ] ABPA as a cause of secondary amyloidosis has been reported only once in the literature [ Table 1 ]. [ 12 ] A common feature among the previous reported patients includes the presence of asthma and ABPA for at least two decades before the diagnosis of secondary amyloidosis.…”

Section: Discussionmentioning

confidence: 99%

Allergic bronchopulmonary aspergillosis presenting as nephrotic syndrome due to secondary amyloidosis: Case report and systematic review of the literature

et al. 2018

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Allergic bronchopulmonary aspergillosis (ABPA) is a complex inflammatory lung disorder complicating bronchial asthma and cystic fibrosis. Although the condition responds to treatment with glucocorticoids and antifungal drugs, lack of timely recognition, and inadequate treatment of ABPA can lead to progressive lung damage. Uncommonly, long standing inflammation and bronchiectasis can also lead to the development of secondary amyloidosis. Herein, we report a case of ABPA, which presented as nephrotic syndrome and progressed rapidly to end-stage renal disease.

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“…Early diagnosis and treatment of bowel infections may decrease the risk of inflammatory bowel disease. Renal AA amyloidosis had been reported in 38-year-old patient with Bruton's disease [103].…”

Section: Complicationsmentioning

confidence: 99%

Bruton’s Disease

Camcioğlu¹

2015

Immunopathology and Immunomodulation

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Bruton's disease, in other terms X-linked agammaglobulinemia (XLA), is the first reported primary immunodeficiency in 1952, caused by a single genetic defect. The development of B cell is under control of signals transmitted by the B-cell antigen receptor (BCR) complex. Lyn, Syk, and Bruton's tyrosine kinase (BTK) are cytoplasmic protein tyrosine kinases. XLA is caused by mutations in the Btk gene, and Btk mutations are responsible for 85% of all antibody deficiencies. Btk mutation interrupts the B-cell development at the pre-B-cell stage, resulting in the absence of B lymphocytes and plasma cells in peripheral blood and peripheral lymphoid tissues. Up till now, 380 unique mutations have been identified. Autosomal recessive forms of agammaglobulinemia also result in B-cell defects, but more severe bacterial infections are seen in XLA patients due to absolute block in early B-cell development. All serum immunoglobulin isotypes are decreased, and antibody production especially against vaccine antigens is impaired. Most of the XLA patients have clinical signs and symptoms after 6 to 9 months of age due to diminished protective maternal antibodies transmitted through placenta. The most frequent symptoms are recurrent upper and lower respiratory tract infections, some of them may suffer from neutropenia. These patients are susceptible to enteroviral infection, which causes chronic meningoencephalitis and dermatomyositis-like syndrome. Recurrent respiratory tract infections lead to chronic lung disease and bronchiectasis. These infections may disable the patient and result in death. B-cell dysfunction may also cause autoimmunity and B-cell malignancies. Patients with recurrent infections have to be evaluated for the primary immunodeficiency. X-linked agammaglobulinemia has to be considered with low serum IgG, IgA,

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Renal Amyloidosis in a Patient with X-linked Agammaglobulinemia (Bruton’s Disease) and Bronchiectasis

Abstract: We present a patient with Bruton's disease and bronchiectasis who developed renal AA amyloidosis a finding rarely reported.

Cited by 7 publications

References 9 publications

Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency

Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency

Allergic bronchopulmonary aspergillosis presenting as nephrotic syndrome due to secondary amyloidosis: Case report and systematic review of the literature

Bruton’s Disease

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