Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience
| Autor: | Onder Yavascan, Eren Soyaltın, Belde Kasap Demir, Afig Berdeli, Demet Alaygut, Seçil Arslansoyu Çamlar, Merve Arya, Caner Alparslan, Fatma Mutlubaş |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Glomerular Hyperfiltration
Risk Male Pediatrics medicine.medical_specialty TRPP Cation Channels Autosomal dominant polycystic kidney disease Single Center urologic and male genital diseases Kidney Real-Time Polymerase Chain Reaction Article children medicine Humans Cyst Genetic Predisposition to Disease Family history Child Retrospective Studies PKD1 Volume business.industry urogenital system Cysts Infant Mean age General Medicine medicine.disease Polycystic Kidney Autosomal Dominant Magnetic Resonance Imaging Child Preschool Tolvaptan Female Hepatic Cyst business Kidney disease |
| Zdroj: | Turkish Journal of Medical Sciences |
| ISSN: | 1303-6165 1300-0144 |
| Popis: | Background/aim: In children with autosomal dominant polycystic kidney disease (ADPKD), clinical manifestations range from severe neonatal presentation to renal cysts found by chance. We aimed to evaluate demographic, clinical, laboratory findings, and genetic analysis of children with ADPKD. Materials and methods: We evaluated children diagnosed with ADPKD between January 2006 and January 2019. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively. Patients < 10 years and >= 10 years at the time of diagnosis were divided into 2 groups and parameters were compared between the groups. Results: There were 41 children (M/F: 18/23) diagnosed with ADPKD. The mean age at diagnosis was 7.2 +/- 5.1 (0.6-16.9) years and the follow-up duration was 59.34 perpendicular to 40.56 (8-198) months. Five patients (12%) were diagnosed as very early onset ADPKD. All patients had a positive family history. Genetic analysis was performed in 29 patients (PKD1 mutations in 21, PKD2 mutations in 1, no mutation in 3). Cysts were bilateral in 35 (85%) of the patients. Only one patient had hepatic cysts. No valvular defect was defined in 12 patients detected. Only 1 patient had hypertension. None of them had chronic kidney disease. No difference could be demonstrated in sex, laterality of the cysts, maximum cyst diameter, cyst or kidney enlargement, follow-up duration, or GFR at last visit between Groups 1 and 2. Conclusion: The majority of children with ADPKD had preserved renal functions and slight cyst enlargement during their follow-up. However, they may have different renal problems deserving closed follow-up. |
| Databáze: | OpenAIRE |
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