Presentation
Clinical description CGD can present at any age but is most commonly diagnosed before the age of 5 years. [orpha.net]
Disclaimer I have provided a disclaimer related to the content of this presentation and what it will cover and not cover. [medpagetoday.com]
Hematological
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Hemophilia A
Treatment Center James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis [emedicine.medscape.com]
Homeologous recombinationbetween AluSx-sequences as a cause of hemophilia. Hum Mutat 24:440.Ryser MF, Roesler J, Gentsch M, Brenner S. 2007. Gene therapy for chronicgranulomatous disease. [documents.tips]
A _______________________________________________________________ 3077 F8 990 _______________________________________________________________ HEMOPHILIA B _______________________________________________________________ 1577 F9 750 ___________________ [slidelegend.com]
Entire Body System
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Physician
BACKGROUND New cancer cases are most often diagnosed by non-oncologist physicians. It is therefore essential for all physicians to be aware of cancer preventive practices and use them appropriately with their patients. [40.preemptive.us]
An advanced test called the cytochrome C reduction assay tells physicians how much superoxide a patient's phagocytes can produce. [en.wikipedia.org]
Necessary Information Ordering physician name and phone number are required. Specimen Required Both a whole blood sodium heparin specimen and a whole blood sodium heparin control specimen from an unrelated, healthy donor are required. [endocrinology.testcatalog.org]
Am Fam Physician. 2013; 87(11):773-8. PMID: 23939499 Triot, A, et al. Inherited biallelic CSF3R mutations in severe congenital neutropenia. Blood. 2014; 123(24):3811-7. PMID: 24753537 Klimiankou, M, et al. [invitae.com]
Unfortunately, physicians other than specialized pediatricians are seldom familiar with CGD, which is a rare disorder (approx. 1 in 200,000 newborns). The prognosis of CGD patients clearly depends on residual NADPH oxidase activity [26]. [journals.plos.org]
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Recurrent Bacterial Infection
bacterial infections Serratia marcescens infectious lymphadenitis (infectious adenitis) bacteria lymphadenitis adenitis S. aureus mycobacteria pulmonary infection due to Aspergillus nidulans fungal osteomyelitis fungal lymphadenitis Candida sp. [humpath.com]
[…] neutrophilia, recurrent bacterial infections, associated with developmental abnormalities. [quizlet.com]
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Falling
The patient also presented with failure to thrive in the month preceding his admission, with a fall from the 50th percentile for weight down to the 15th percentile. [frontiersin.org]
Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. [invitae.com]
Adult patients fall into three categories: those diagnosed as children and surviving to adulthood 25, those who are symptomatic in childhood but are diagnosed only as adults 26 and those with mild disease who present for the first time as adults 26. [f1000research.com]
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Fishing
The data were submitted to qualitative statistical analysis according to Fishe ... [sv.tantalize.us]
Frogs and fish have also no homologies to exons 11 and 12, but lack some additional homologies to human NCF2 exons. [journals.plos.org]
_______________________________________________________________ FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY _______________________________________________________________ 852 GDF5 520 _______________________________________________________________ FISH-EYE [slidelegend.com]
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Sepsis
/Hypoplasia of the thymus Abnormality of the thymus Aplasia of the thymus Impaired T cell function Granulocytopenia Abnormality of neutrophils Chronic otitis media Failure to thrive secondary to recurrent infections Leukopenia Dehydration Skin ulcer Sepsis [mendelian.co]
Sepsis is a common cause of death in CGD. Epidemiology Frequency United States The exact incidence of chronic granulomatous disease (CGD) is unknown. [emedicine.medscape.com]
Immune System
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Splenomegaly
Recurrent Burkholderia cepacia infections ; Recurrent E. coli infections ; Recurrent Klebsiella infections ; Recurrent Serratia marcescens infections ; Recurrent Staphylococcus aureus infections ; Recurrent bacterial skin infections ; Recurrent pneumonia ; Splenomegaly [mousephenotype.org]
CELL-POSITIVE, NK CELL-POSITIVE Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive;t-b scid due to il-7ralpha deficiency Related symptoms: Autosomal recessive inheritance Growth delay Failure to thrive Hepatomegaly Splenomegaly [mendelian.co]
Two weeks later, fever with splenomegaly, pancytopenia, low fibrinogen levels, and elevated ferritin and soluble CD25 levels were noted. [wwwnc.cdc.gov]
Gastrointestinal
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Dysphagia
Failure to successfully resolve inflammation can underlie the persistent inflammatory responses in CGD patients, as manifested by colitis, urinary tract obstruction, dysphagia, gastric outlet obstruction and chorioretinitis. [medimmunol.biomedcentral.com]
TEST NAME PRICE EARLY-ONSET MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS AND DYSPHAGIA _______________________________________________________________ 4805 MEGF10 990 _______________________________________________________________ EARLY-ONSET PRIMARY DYSTONIA [slidelegend.com]
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Dysphagia
Failure to successfully resolve inflammation can underlie the persistent inflammatory responses in CGD patients, as manifested by colitis, urinary tract obstruction, dysphagia, gastric outlet obstruction and chorioretinitis. [medimmunol.biomedcentral.com]
TEST NAME PRICE EARLY-ONSET MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS AND DYSPHAGIA _______________________________________________________________ 4805 MEGF10 990 _______________________________________________________________ EARLY-ONSET PRIMARY DYSTONIA [slidelegend.com]
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Nausea
[…] lymph nodes; so themost common area of inflammation are gastrointestinal tract; (in many cases the intestinal wall is inflamed, causing a form ofinflammatory bowel disease that varies in severity but can lead tostomach pain, diarrhea, bloody stool, nausea [avensonline.org]
However, with initiation of feedings, he developed progressive abdominal distension with nausea and severe gastroesophageal reflux disease. [frontiersin.org]
Workup
This study reports the case of a 60-year-old man having painless nodules on his elbows and Achilles tendons without typical gout crisis, followed in the microcrystalline disease clinic of Unifesp for diagnostic workup. [40.preemptive.us]
In countries where consanguineous marriages are high, the autosomal recessive p47 phox CGD is much more frequent than X-linked CGD. 10 Like the first case, the traditional immunological work up was non-contributory and a workup for CGD was initiated. [cytometry.org]
At 5 months, multiple diffuse pulmonary nodules were found both on CT scan and PET scan during his pre-BMT workup. [frontiersin.org]
Treatment
See also the following treatment articles: Treatments for Chronic Granulomatous Disease Causes See also causal information: Causes of Chronic Granulomatous Disease Similar Topic Articles Chronic granulomatous disease Names and Terminology References [familydiagnosis.com]
Treatment of the GI manifestations has been varied but our study shows that conventional anti-inflammatory treatments can be effective. [adc.bmj.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Prognosis The prognosis has greatly improved with the use of antibacterial and antifungal prophylaxis therapy, with most patients living well into adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]
Prognosis Survival of CGD patients has improved from only 21% of patients living beyond 5 years in 1967, to 92% reaching 8 years of age. In a report of patients born over a 32-year period, 50% survived through the third decade of live. [humpath.com]
Semantic Scholar extracted view of "PET/CT scan in traumatic brain injury: a new frontier for the prognosis from cerebellum activity?" by Alessandro Picelli et al. ... [scholarlibs.org]
Etiology
Very rare clinical syndrome, only 5 cases world wide What is the etiology of LAD II? Cause of LAD II is a mutation in the gene encoding GDP fucose mebrane transporter. [quizlet.com]
Interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic etiology of MSMD. [40.preemptive.us]
Etiology CGD is caused by mutations in any one of the 5 genes encoding the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase subunits. [orpha.net]
Epidemiology
Genatlas disease for NCF1 Gene chronic granulomatous disease,autosomal common form Relevant External Links for NCF1 Genetic Association Database (GAD) NCF1 Human Genome Epidemiology (HuGE) Navigator NCF1 Atlas of Genetics and Cytogenetics in Oncology [genecards.org]
Summary Epidemiology The average worldwide birth prevalence is estimated at 1/ 217,000. Clinical description CGD can present at any age but is most commonly diagnosed before the age of 5 years. [orpha.net]
The average patient now survives at least 40 years. [26] Epidemiology [ edit ] CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year. [4] [5] Chronic granulomatous disease affects all people of all races [en.wikipedia.org]
Pathophysiology
Neutrophil function disorders: pathophysiology, prevention, and therapy. J Pediatr. 1991 Sep. 119(3):343-54. [Medline]. [emedicine.medscape.com]
Chronic Nonbacterial Osteomyelitis: Pathophysiological Concepts and Current Treatment Strategies. J Rheumatol. 2016 Nov;43(11):1956-1964. Stein R, Kapplusch F, Heymann MC, Russ S, Staroske W, Hedrich CM, Rösen-Wolff A, Hofmann SR. [kfo249dresden.de]
Pathophysiology [ edit ] Phagocytes (i.e. neutrophils and macrophages ) require an enzyme to produce reactive oxygen species to destroy bacteria after they are ingested ( phagocytosis ), a process known as the respiratory burst. [en.wikipedia.org]
Seger RA (2010) Chronic granulomatous disease: recent advances in pathophysiology and treatment. Neth J Med 68: 334-340. [omicsonline.org]
This change is attributed to better recognition of the disease and an understanding of its pathophysiology, development of more effective antimicrobial agents, 24,25 interferon-γ prophylaxis, 26 and bone marrow transplantation. 27 Survival in our cohort [nejm.org]
Prevention
These findings will facilitate the implementation of preventive approaches through genetic counseling in affected consanguineous families. [f1000.com]
These findings will facilitate the implementation of preventive approaches through genetic counseling in affected consanguineous families. Still can't find the full text of the article? We can help you send a request to the authors directly. [pubfacts.com]
Management and treatment Antibacterial and antifungal prophylaxis is essential in preventing the infections seen in CGD. Lifelong daily doses of trimethoprim-sulfamethoxazole (antibacterial) and itraconazole (anti-fungal) are recommended. [orpha.net]