May Long-Term Follow-Up in Alport Syndrome Assess Potential Cardiovascular Risks?

Abstract

Aim: Alport Syndrome (AS) causes clinical findings as a result of structural defects in type 4 collagen, an important protein of the glomerular basement membrane and extracellular matrix. The aim of the study is to compare the current cardiological, clinical and biochemical data of 8 patients genetically diagnosed with AS with data from 5 years ago and to investigate the possible long-term risks of acute cardiovascular disease with the obtained data. Material and Methods: Current demographic, laboratory and clinical data of eight patients diagnosed with AS as a result of genetic analysis were compared with data from 5 years ago. Ophthalmological and auditory tests were performed on the patients, as well as transthoracic echocardiography. Demographic characteristics of the patients and laboratory findings were measured. Results: When the presence of hematuria and heart valve insufficiency were compared, a significant improvement was determined compared to 5 years ago. In addition, when the biochemical parameters indicating kidney, liver and thyroid functions were compared to the values 5 years ago, no significant change was detected. Although not statistically significant, problems related to vision loss were observed to decrease. Conclusion: In the literature, life-threatening cardiovascular events accompanying AS usually occur after advanced renal failure and hypertension are detected in the clinical follow-up of patients. Therefore, it is vital to closely monitor the renal functions and blood pressure of patients diagnosed with AS throughout their lives in order to protect them from cardiovascular diseases with high mortality and to take preventive measures.

Keywords

• Alport syndrome
• aortic aneurysm
• aortic dissection
• renal failure
• hypertension

Alport Sendromunda Uzun Dönemli Takip Potansiyel Kardiyovasküler Riskleri Değerlendirebilir mi?

Abstract

Amaç: Alport Sendromu (AS), glomerüler bazal membran ve ekstraselüler matriksin önemli bir proteini olan tip 4 kollajen deki yapısal bozukluklar sonucu klinik bulgulara neden olur. Çalışmanın amacı, genetik olarak AS tanısı konulan 8 hastanın güncel kardiyolojik, klinik ve biyokimyasal verilerini 5 yıl öncesine ait veriler ile karşılaştırmak ve elde edilen verilerle, uzun vadede gelişebilecek olası akut kardiyovasküler hastalık risklerini araştırmaktır. Gereç ve Yöntemler: Genetik analiz sonucunda AS tanısı alan sekiz hastanın güncel demografik, laboratuvar ve klinik verileri, 5 yıl öncesine ait veriler ile karşılaştırıldı. Hastalara oftalmolojik ve işitsel testlerin yanısıra, transtorasik ekokardiyografi işlemi yapıldı. Hastaların demografik özellikleri kaydedildi, laboratuvar bulguları ölçüldü. Bulgular: Hematüri ve kalp kapak yetersizliği varlığı 5 yıl önceki veriler ile karşılaştırıldığında, güncel değerlerde anlamlı iyileşme olduğu saptandı. Bununla birlikte, böbrek, karaciğer ve tiroid fonksiyonlarını gösteren biyokimyasal parametreler 5 yıl öncesine ait değerlerle karşılaştırıldığında anlamlı bir değişiklik saptanmadı. Ayrıca istatistiksel olarak anlamlı olmasa da görme kaybı ile ilgili problemlerin azaldığı görüldü. Sonuç: Literatürde AS'a eşlik eden yaşamı tehdit eden kardiyovasküler olaylar genellikle hastaların klinik takibinde böbrek yetmezliği ve hipertansiyon saptandıktan sonra ortaya çıkmaktadır. Bu nedenle AS tanısı almış hastaların böbrek fonksiyonlarının ve kan basınçlarının yaşamları boyunca yakından izlenmesi, yüksek mortaliteye sahip kardiyovasküler hastalıklardan korunma da ve önleyici tedbirler alınmasında hayati önem arz etmektedir.

Keywords

• Alport sendromu
• aort anevrizması
• aort diseksiyonu
• böbrek yetmezliği
• hipertansiyon

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