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Published on: June 23, 2015
Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
Sara Grlić1, Viktorija Gregurović1, Mislav Martinić2
1Department of Pediatrics, School of Medicine, University of Zagreb, 10000 Zagreb, Croatia.
Insights
This study of pediatric cystic kidney disease (CyKD) found multicystic dysplastic kidney disease to be most common, with abdominal distension and pain as frequent symptoms. Long-term complications included recurrent urinary tract infections, hypertension, chronic kidney disease, and end-stage renal disease.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Clinical Diagnostics
Background:
- Pediatric cystic kidney disease (CyKD) encompasses various conditions characterized by renal cysts in children.
- Current diagnostic and clinical assessments are crucial for predicting outcomes due to a lack of reliable genetic or other biomarkers.
- Understanding the spectrum and progression of CyKD is vital for effective patient management.
Purpose of the Study:
- To provide a comprehensive overview of pediatric cystic kidney disease.
- To analyze real-world data from a single-center pediatric CyKD cohort over a 12-year period.
- To identify common presentations, genetic factors, and long-term outcomes in pediatric CyKD.
Main Methods:
- Retrospective review of medical records for 112 pediatric patients diagnosed with CyKD.
- Collection of clinical, laboratory, and radiological data, treatment strategies, and long-term follow-up information.
- Analysis of disease prevalence, presenting symptoms, genetic testing results, and progression to chronic kidney disease (CKD) and end-stage renal disease (ESRD).
Main Results:
- Multicystic dysplastic kidney disease was the most prevalent diagnosis (56 patients).
- Common presenting symptoms included abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%).
- Long-term complications observed were recurrent urinary tract infections (UTI) in 25% and hypertension in 20.5%; 17 patients progressed to CKD, with 13 reaching ESRD.
Conclusions:
- This study represents the first large pediatric cystic kidney disease cohort reported from Croatia.
- Multicystic dysplastic kidney disease and symptoms like abdominal distension/pain were most common.
- Recurrent UTIs, hypertension, CKD, and ESRD are significant long-term complications requiring monitoring and management.
Introduction:
Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes.
Aim:
A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period.
Methods And Materials:
Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes.
Results:
During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet-Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0-31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0-141.0) months. The median follow-up duration in the cohort was 3.0 (1.0-7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation.
Conclusion:
This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD.
