Kostmann Syndrome: A Case Report

Abstract

Severe congenital neutropenia (SCN) is a primary immune deficiency disease characterized by a rare deficiency of mature neutrophils. Clinical features include recurrent and life-threatening infections and a reduced absolute neutrophil count from birth. There is also an increased risk of myelodysplastic syndrome and acute myeloblastic leukemia. A four-year-old girl has recurrent oral aft, tonsillopharyngitis, soft tissue, and lung infections. Due to the complaints of the patient, she was hospitalized several times, once in intensive care. She needed intravenous or oral antibiotics about 15 times a year due to recurrent infections. The patient applied to our clinic with fever, fatigue, swelling, and redness in the frontal region. In her history has the patient was administered drainage and antibiotic therapy one year ago due to an abscess in the frontal region. There was a kinship between the parents. There were no individuals with similar complaints in the family. In our patient’s genetic analysis, there was a homozygous mutation in the HAX1 (HCLS1-associated protein X-1) gene, and SCN type 3 was diagnosed. The heterozygous same mutation was present in the mother and father. We reported this case to emphasize that Kostmann Syndrome as a rare disease in children with recurrent infections and neutropenia.

Keywords

• Childhood
• Kostmann Syndrome
• Neutropenia
• Recurrent infections

Kostmann Sendromu: Bir Vaka Sunumu

Abstract

Ağır konjenital nötropeniler (AKN), nadir görülen olgun nötrofillerin eksikliği ile karakterize primer bir immün yetersizlik hastalığıdır. Klinik özellikler arasında doğumdan itibaren azalmış mutlak nötrofil sayısı, tekrarlayan ve yaşamı tehdit eden enfeksiyonlar vardır. Ayıca miyelodisplastik sendrom, akut miyeloblastik lösemi riskinde artış vardır. Dört yaş kız çocuğu sık tekrarlayan ağız içi yaraları, tonsillofarenjit, yumuşak doku ve akciğer enfeksiyonları ile başvurdu. Hastanın şikâyetleri nedeniyle bir kez yoğun bakımda olmak üzere birçok kez hastaneye yatışları olmuş. Tekrarlayan enfeksiyonlar nedeniyle bir yılda yaklaşık 15 kez intravenöz veya oral antibiyotik ihtiyacı olduğu öğrenildi. Hasta ateş, halsizlik ve frontal bölgede şişlik, kızarıklık şikâyetleri ile kliniğimize başvurdu. Öyküsünde, bir yıl önce de frontal bölgede apse gelişen hastaya drenaj ve antibiyotik tedavisi uygulandığı öğrenildi. Anne baba arasında akrabalık mevcuttu. Ailede benzer şikâyetleri olan bireyler yoktu. Hastamızın genetik analizinde HAX1 (HCLS1 ilişkili protein X-1) geninde homozigot mutasyon saptandı ve AKN tip 3 tanısı konuldu. Anne ve baba da aynı heterozigot mutasyon vardı. Özellikle tekrarlayan enfeksiyonlar ve nötropeni tespit edilen hastalarda nadir görülen bir hastalık olan Kostmann sendromunun ayırıcı tanıda düşünülmesi gerektiğini vurgulamak amacıyla bu vakayı sunduk

Keywords

• Nötropeni,
• Kostman Sendromu
• Çocukluk çağı
• Sık enfeksiyon

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