Kronik Granülomatöz Hastalıklı Olguların Laboratuar, Klinik ve Genetik Özellikleri: Erciyes Üniversitesi Deneyimi

Güngör, Hatice Eke; Patıroğlu, Türkan; Ünal, Ekrem
September 2012
Erciyes Medical Journal / Erciyes Tip Dergisi;2012, Vol. 34 Issue 3, p121
Academic Journal
Objective: Chronic granulomatous disease (CGD) is a rare innate immune deficiency with neutrophil function disorder. In this retrospective study, we aimed to evaluate the clinical features of the patients with CGD. Material and Methods: The files of seven patients diagnosed as CGD were retrospectively evaluated in this study. The initial complaints, age at diagnosis, consanguinity of the parents, similar disease history or death of the siblings, physical examination, diagnostic tests, clinical courses, and genetic characteristics were analyzed. Results: The initial complaints started before the age of one in three patients; whereas only two patients were diagnosed before the first birthday. Lymphadenomegaly, suppurative infections, pneumonia and diarrhea were the most noted initial complaints. All parents were consanguineous. The clinical features were mild; and the ages of diagnosis were late in patients with p47 and p67 mutations. The patient with X linked CGD was diagnosed when he was 3 months old; his clinical course was complicated with chronic otitis media, zygomatic abscess, lung abscess, and facial paralysis. The patient with p22 mutation was diagnosed at two months of age; and gastric wall granuloma with inflammation in the proximal femur were detected. Conclusion: The results of the present study are in agreement with the literature, where disease onset was earlier and clinical course was more severe in patients displaying X-linked inheritance. However, age of disease onset and diagnosis were usually more delayed and the clinical course was milder in cases with p47 defect. Complications could be avoided with early diagnosis and appropriate prophylaxis by improving awareness of CGD in our country where intermarriage is common.


Related Articles

  • Mycetoma: Experience of 482 Cases in a Single Center in Mexico. Bonifaz, Alexandro; Tirado-Sánchez, Andrés; Calderón, Luz; Saúl, Amado; Araiza, Javier; Hernández, Marco; González, Gloria M.; Ponce, Rosa María // PLoS Neglected Tropical Diseases;Aug2014, Vol. 8 Issue 8, p1 

    Mycetoma is a chronic granulomatous disease. It is classified into eumycetoma caused by fungi and actinomycetoma due to filamentous actinomycetes. Mycetoma can be found in geographic areas in close proximity to the Tropic of Cancer. Mexico is one of the countries in which this disease is highly...

  • Diagnosing Pneumonia Using Physical Examination. Apgar, Barbara // American Family Physician;10/1/1999, Vol. 60 Issue 5, p1532 

    Highlights a study that assessed the interobserver reliability of physical examination alone in diagnosing pneumonia in patients with suspected lower respiratory infection. Methodology; Participants in the study; Results; Conclusion; Implications.

  • Invasive Mold Infections in Chronic Granulomatous Disease: A 25-Year Retrospective Survey. Blumental, Sophie; Mouy, Richard; Mahlaoui, Nizar; Bougnoux, Marie-Elisabeth; Debré, Marianne; Beauté, Julien; Lortholary, Olivier; Blanche, Stéphane; Fischer, Alain // Clinical Infectious Diseases;12/15/2011, Vol. 53 Issue 12, pe159 

    Background. Invasive fungal infection (IFI) represents a life-threatening condition for patients with chronic granulomatous disease (CGD) and causes one-third of deaths in this population. This study offers a descriptive review of invasive mold infection (mIFI) in children with CGD over an...

  • Chronic Granulomatous Disease in Morocco: Genetic, Immunological, and Clinical Features of 12 Patients from 10 Kindreds. Baba, Laila; Ailal, Fatima; Hafidi, Naima; Hubeau, Marjorie; Jabot-Hanin, Fabienne; Benajiba, Noufissa; Aadam, Zahra; Conti, Francesca; Deswarte, Caroline; Jeddane, Leila; Aglaguel, Ayoub; Maataoui, Ouafaa; Tissent, Ahmed; Mahraoui, Chafiq; Najib, Jilali; Martinez-Barricarte, Ruben; Abel, Laurent; Habti, Norddine; Saile, Rachid; Casanova, Jean-Laurent // Journal of Clinical Immunology;May2014, Vol. 34 Issue 4, p452 

    Purpose: Chronic granulomatous disease (CGD) is characterized by an inability of phagocytes to produce reactive oxygen species (ROS), which are required to kill some microorganisms. CGD patients are known to suffer from recurrent bacterial and/or fungal infections from the first year of life...

  • Diagnostic and Prognostic Testing in Pneumonia. Karnath, Bernard M.; Luh, Join Y. // Annals of Internal Medicine;12/2/2003, Vol. 139 Issue 11, p955 

    Comments on the article by Metlay et.al. on diagnostic and prognostic testing in pneumonia. Level of certainty in the diagnosis of community-acquired pneumonia; Structured teaching of pulmonary physical examination skills; Reliability of eliciting positive physical examination findings in...

  • COMPLICAÅ¢II INFECÅ¢IOASE ÃŽN CANCERUL BRONHO -PULMONAR.  // Romanian Journal of Infectious Diseases;2010, Vol. 13 Issue 3, p119 

    No abstract available.

  • Clinical features of chronic granulomatous disease: a series of 26 patients from a single center.  // Turkish Journal of Pediatrics;Nov/Dec2010, Vol. 52 Issue 6, p576 

    No abstract available.

  • Transtendon rotator-cuff repair of partial-thickness articular surface tears can lead to medial rotator-cuff failure. Woods, Tom C.; Carroll, Michael J.; Nelson, Atiba A.; More, Kristie D.; Berdusco, Randa; Sohmer, Stephen; Boorman, Richard S.; Lo, Ian K. Y. // Open Access Journal of Sports Medicine;2014, Vol. 5, p151 

    Purpose: The purpose of this study was to evaluate clinical and anatomic outcomes of patients following transtendon rotator-cuff repair of partial articular supraspinatus tendon avulsion (PASTA) lesions. Patients and methods: Patients in the senior author's practice who had isolated PASTA...

  • Correlation between urodynamic tests, history and clinical findings in treatment of women with urinary incontinence. Borges, João Bosco Ramos; Guarisi, Telma; de Camargo, Ana Carolina Marchesini; Borges, Pítia Cárita de Godoy // Einstein (16794508);Oct-Dec2010, Vol. 8 Issue 4, p437 

    Objective: The aim of this study was to evaluate the role of urodynamic test in diagnosis of urinary incontinence, comparing detailed data of history and physical examination, and some easy-to-apply clinical tests. Methods: A cross-sectional retrospective study was carried out by reviewing the...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics