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Outcome of primary tubular tubulopathies diagnosed in pediatric age
Cristina Julia Blázquez Gómez1, Helena Gil-Peña1, Flor A Ordóñez Álvarez1
1Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain.
Insights
Primary tubulopathies, rare pediatric kidney diseases, significantly impact growth and kidney function. Early diagnosis and treatment can largely reverse growth impairment and mitigate complications.
Area of Science:
- Pediatric Nephrology
- Genetics
- Rare Diseases
Background:
- Primary tubulopathies are rare genetic disorders typically presenting in childhood.
- Advances in genetic diagnostics and therapeutics are improving patient outcomes.
- Understanding the clinical spectrum and long-term effects is crucial for management.
Purpose of the Study:
- To describe the clinical spectrum of primary tubulopathies diagnosed in a pediatric nephrology unit.
- To provide long-term follow-up data on growth, renal function (eGFR), and complications.
- To analyze the impact of genetic defects on disease presentation and progression.
Main Methods:
- An observational study included 53 pediatric patients with genetically confirmed primary tubulopathies.
- Data collected included demographics, clinical presentation, laboratory results, and follow-up information.
- Key diagnoses included Gitelman syndrome, distal renal tubular acidosis, and cystinuria.
Main Results:
- The median age at diagnosis was 5.08 years, with short stature (38%) and metabolic decompensation (40%) as common initial symptoms.
- Growth improved significantly after treatment, with height normalized from -1.39 to 1.07 SDS.
- 32% of patients experienced a decline in eGFR, and significant extrarenal complications, including sensorineural deafness in distal renal tubular acidosis patients, were observed.
Conclusions:
- Primary tubulopathies represent a diverse group of conditions with significant potential for growth impairment.
- Treatment can largely reverse growth deficits, but a risk of reduced eGFR and extrarenal complications persists.
- Long-term monitoring is essential for managing these complex pediatric kidney diseases.
Background And Objective:
Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration (eGFR) and intercurrent complications.
Patients And Methods:
Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1-2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study.
Results:
The age (median and interquartile range) at diagnosis was 5.08 years (1.33-8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean ± SD) was -1.39 ± 1.49 at diagnosis and 1.07 ± 1.54 after a follow-up of 18.92 (6.25-24.33) years. Sixteen (32%) developed an eGFR <90 ml/min/1.73 m2. Three patients required replacement renal replacement. Eleven patients had metabolic decompensations that required hospitalization, 9 renal colic and/or kidney stones and 10 mental problems. Six of 8 patients with distal renal tubular acidosis developed sensorineural deafness.
Conclusions:
Primary tubulopathies are a heterogeneous group of diseases that cause growth impairment, largely reversible with treatment, risk of eGFR reduction and significant extrarenal complications derived or associated.
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