Sistin Taşı Olan Çocuk Hastaların Değerlendirilmesi: Tek Merkez Deneyimi

Abstract

Giriş: Sistinüri nadir görülen bir genetik hastalıktır. Birçok hasta, önemli ölçüde tekrarlayan ürolitiyazis, tekrarlayan cerrahi müdahaleler ve ilerleyici böbrek yetmezliği ile karşı karşıya kalmaktadır. Bu çalışmada sistin taşı olan hastaların sonuçları değerlendirildi.

Gereç ve Yöntemler: Çocuk Nefroloji Bölümümüzde, yaşları 3 ay ile 18 arasında değişen, sistin taşı olan toplam 26 sistinürili hasta retrospektif olarak incelendi.

Bulgular: Hastaların, tanı anındaki ortalama yaşı 45.2 ± 45.5 aydı ve % 88,5'i erkekti. On altı (% 62) çocukta tekrarlayan idrar yolu enfeksiyonu vardı. Sadece 10 (% 38) hastada ek olarak diğer metabolik anormallikler mevcuttu. Tedavi ile idrar pH'sının anlamlı olarak arttığı saptandı ve idrar pH ≥ 6.5 olan hastalarda taş tekrarlama sayısı daha düşük bulundu. Son-geliş serum kreatinin düzeyi ile cerrahi müdahale sayısı arasında anlamlı bir pozitif korelasyon mevcuttu. Son-vizit eGFR ile cerrahi girişim sayısı arasında anlamlı bir ilişki bulunmazken, toplam cerrahi girişim sayısı arttıkça eGFR değerleri azalmaktaydı. Takip süresi sonunda 10 hastada (% 38) taş olayı görülmedi ve tüm hastalarda hasta-yılı başına taş olayı 0.36'dı. Çalışmanın başlangıcında düşük eGFR'li dört hastanın eGFR’sinin takipte tedavi ile normale geldiği görüldü.

Sonuç: Sistinüri, düzgün kontrol altına alınmazsa önemli morbiditeye sahiptir. Tüm tedavilere rağmen sistinüride böbrek yetmezliği gelişebileceği akılda tutulmalı ve minimal invaziv seçenekler düşünülerek cerrahi tedavi planlanmalıdır.

Keywords

• Çocuk
• sistinüri
• Ürolitiazis
• Böbrek taşı

Evaluation of Children with Cystine Stones: A single-Center Experience

Abstract

Introduction: Cystinuria is a rare genetic disorder. Many patients suffer from significant recurrent urolithiasis, repeated surgical interventions and the risk of progressive renal impairment. In the current study, the outcomes of patients with cystine stones were investigated.

Methods: A total of Twenty-six cystinuria patients with cystine stones, aged between 3 months and 18 years, in our Pediatric Nephrology Department, were retrospectively analyzed.

Results: The mean age of patients at diagnosis was 45.2±45.5 months and 88,5% were male. Sixteen (62%) children had recurrent urinary tract infections. Only 10 (38%) patients revealed additional metabolic abnormalities. The urinary pH had significantly increased with treatment and the number of stone recurrence was lower in the patients with urinary pHs ≥ 6.5. There was a significant positive correlation between the last-visit serum creatinine level and the number of surgical interventions. There was not a significant correlation between the last-visit eGFR and the number of surgical interventions, on the other hand, eGFR values decreases as the total number of surgical interventions increases. No stone events were observed at the end of the follow-up period in 10 patients (38%) and the stone events per patient-year was 0.36 for all patients. Four patients with low eGFRs at the beginning of the study get normal with treatment after the follow-up period.

Conclusion: Cystinuria has significant morbidity if not properly controlled. Despite all treatments, it should be kept in mind that renal impairment may develop in cystinuria and surgical treatment should be planned by considering minimally invasive options.

Keywords

• child
• cystinuria
• Urolithiasis
• Kidney stones

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