Long-term follow-up and outcome of 39 patients with chronic granulomatous disease

2000 ◽  
Vol 137 (5) ◽  
pp. 687-693 ◽  
Author(s):  
Johannes Liese ◽  
Sibylle Kloos ◽  
Verena Jendrossek ◽  
Theoni Petropoulou ◽  
Uwe Wintergerst ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Long Term Follow Up

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: An Italian multicenter study

2008 ◽  
Vol 126 (2) ◽  
pp. 155-164 ◽  
Author(s):  
Baldassarre Martire ◽  
Roberto Rondelli ◽  
Annarosa Soresina ◽  
Claudio Pignata ◽  
Teresa Broccoletti ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Clinical Features ◽  
Multicenter Study ◽  
Large Cohort ◽  
Granulomatous Disease ◽  
Long Term Follow Up

scholarly journals Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience

Blood ◽  
2016 ◽  
Vol 128 (3) ◽  
pp. 440-448 ◽  
Author(s):  
Beatriz Morillo-Gutierrez ◽  
Rita Beier ◽  
Kanchan Rao ◽  
Lauri Burroughs ◽  
Ansgar Schulz ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Alkylating Agent ◽  
Granulomatous Disease ◽  
Gonadal Function ◽  
Allogeneic Hsct ◽  
Key Points ◽  
Long Term Follow Up ◽  
Low Toxicity

Key Points Treosulfan, a low-toxicity alkylating agent, can be used effectively as part of conditioning for HSCT in children with CGD. Long-term follow-up is required to ascertain effects, particularly on gonadal function and compare with other regimens.

Chronic Granulomatous Disease In Patients Reaching Adulthood: A Nationwide Retrospective Study Of 80 Cases In France

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 1028-1028
Author(s):  
Bertrand Dunogué ◽  
Benoit Pilmis ◽  
Nizar Mahlaoui ◽  
Caroline Elie ◽  
Hélène Coignard-Biehler ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Chronic Granulomatous Disease ◽  
Conflicts Of Interest ◽  
Case Report Form ◽  
Granulomatous Disease ◽  
Hematopoietic Stem ◽  
Long Term Outcome ◽  
Annual Frequency

Abstract Introduction Chronic granulomatous disease (CGD) is a rare inherited disorder due to a defect in NADPH oxidase, resulting in recurrent, life-threatening invasive infections and granulomatous inflammatory disorders. Although CGD is diagnosed mostly in early childhood, its prognosis has now much improved, allowing a majority of patients to reach adulthood. Very few studies have focused on the long-term outcome of adult CGD patients. Objective To study the clinical course and sequelae at various time points (age 16, 20, 30 and beyond) of CGD patients, diagnosed before 16 years of age. Method A one-year (May 2012 to May 2013) French national retrospective study of CGD patients, diagnosed before the age of 16 years, and who had reached adulthood (defined as above 16 years of age) by the time of data collection. CGD patients were screened through the registry of the French national reference center of primary immune deficiencies (CEREDIH), and data were retrieved by reviewing medical charts and collected in a pre-defined case-report form. Results Eighty CGD patients (71 male (88.7%), 59 X-linked (73.7%), with a median NBT level of 0 [range:0; 15]) were included in the study. Median ages at diagnosis and last follow-up were 2.52 years [range: 0; 15.87] and 23.9 years [range: 16.61; 59.89], respectively. Seventeen patients (21%) were older than 30 years at time of last follow-up. Seven patients (8.8%) had undergone a hematopoietic stem-cell transplantation (HSCT). A total of 553 infections requiring hospital care (382 before age 16, and 171 thereafter), occurred among all patients during follow-up. The most common sites of infection were: pulmonary (31% of total infections, involving 77.5% patients), suppurative adenitis (24% of infections, 75% of patients), and cutaneous (16.2% of infections, 60% of patients). Aspergillus spp. (17%) and Staphylococcus aureus (10.7%) were the most common pathogens. These characteristics (sites and pathogens involved), as well as the annual frequency of infections, did not vary, when compared before and after age 16. When considering granulomatous events, a total of 224 inflammatory flares, mainly digestive (50%), pulmonary (16.7%) and urologic (10.3%), occurred among 71/80 (88.8%) patients. Thirty autoimmune events (mainly discoid lupus erythematosus) also occurred among 14/80 patients (17.2%). The median age of the first inflammatory event (12.5 years [range: 0.25; 44.2]) was much higher than that of the first serious infectious event (0.97 years [range: 0; 23.9]) (figure 1). The annual frequency of inflammatory events did not however significantly increase after age 16. Concerning the long-term consequences of such repeated infectious and steroid-treated inflammatory events, the main sequelae in CGD adults were a small adult median height and weight (167.5cm [range: 138; 185] and 56 kg [range: 35; 90] at age 20), as well as mild chronic restrictive respiratory failure (26.7% of chronic dyspnoea at the age of 30 years). At the age of 16 years, only 58% of patients were in high school. After 30 years, 9/13 (69%) patients were working, and 2 had had children. Ten patients died during adulthood at a median age of 23.6 years [range: 18.2; 45.4], most of them of infectious causes. Discussion & Conclusion Adult CGD patients display similar characteristics and rates of severe infections as during their childhood. As CGD patients grow older, inflammatory flares also become a major concern, because of an older age of appearance. The high rate of handicap that these repeated infectious and inflammatory events entail in adult CGD patients, now becomes a matter of medical and social considerations. A careful follow-up is thus recommended in specialized centers. Finally, HSCT and gene therapy should be more systematically considered in order to try to avoid long-term complications, which are responsible for major disabilities. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn

2021 ◽  
Vol 12 ◽  
Author(s):  
Milica Miladinovic ◽  
Boris Wittekindt ◽  
Sebastian Fischer ◽  
Elise Gradhand ◽  
Steffen Kunzmann ◽  
...  
Keyword(s):  
Case Report ◽  
Chronic Granulomatous Disease ◽  
Clinical Features ◽  
Early Onset ◽  
Skin Lesions ◽  
Pulmonary Complications ◽  
Granulomatous Disease ◽  
Long Term Prognosis

Chronic granulomatous disease (CGD) is a primary immunodeficiency, which is diagnosed in most patients between one and three years of age. Here we report on a boy who presented at birth with extensive skin lesions and lymphadenopathy which were caused by CGD. An analysis of the literature revealed 24 patients with CGD who became symptomatic during the first six weeks of life. Although pulmonary complications and skin lesions due to infection were the leading symptoms, clinical features were extremely heterogenous. As follow-up was not well specified in most patients, the long-term prognosis of children with very early onset of CGD remains unknown.

Therapy and prevention for mental health: What if mental diseases are mostly not brain disorders?

2019 ◽  
Vol 42 ◽  
Author(s):  
John P. A. Ioannidis
Keyword(s):  
Mental Health ◽  
Mental Disease ◽  
Brain Disorders ◽  
Social Stressors ◽  
Labor Education ◽  
Mental Diseases ◽  
Long Term Follow Up ◽  
Political Decisions

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

A comparison of two approaches to biofeedback treatment in children with recalcitrant constipation/encopresis. Long term follow up

2001 ◽  
Vol 120 (5) ◽  
pp. A397-A397
Author(s):  
M SAMERAMMAR ◽  
J CROFFIE ◽  
M PFEFFERKORN ◽  
S GUPTA ◽  
M CORKINS ◽  
...  
Keyword(s):  
Long Term Follow Up ◽  
Biofeedback Treatment
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