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Published on: June 20, 2018
Distal renal tubular acidosis and amelogenesis imperfecta: A rare association
P Ravi1, T S Ekambaranath, S Ellil Arasi
1Department of Pediatrics, Institute of Social Pediatrics, Stanley Medical College, Chennai, Tamil Nadu, India.
Insights
Renal tubular acidosis (type I RTA) can cause hypokalemic paralysis in children. This case highlights the co-occurrence of RTA and amelogenesis imperfecta, emphasizing the need for comprehensive diagnosis.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
Background:
- Renal tubular acidosis (RTA) is a metabolic disorder affecting kidney function.
- Distal RTA (type I) is the most common form in children, presenting with metabolic acidosis and hypokalemia.
- Amelogenesis imperfecta (AI) is a genetic disorder affecting tooth enamel formation.
Observation:
- A 10-year-old girl, previously asymptomatic, presented with hypokalemic paralysis.
- Diagnostic work-up revealed type I RTA.
- Dental examination diagnosed amelogenesis imperfecta (AI).
Findings:
- The patient exhibited symptoms of hypokalemic paralysis secondary to type I RTA.
- The co-occurrence of type I RTA and AI was identified in this pediatric case.
- This presentation underscores the diverse clinical manifestations of RTA in children.
Implications:
- Early diagnosis and management of RTA are crucial to prevent complications like paralysis.
- Recognizing the association between RTA and AI can aid in timely diagnosis and treatment.
- This case emphasizes the importance of a multidisciplinary approach in managing complex pediatric conditions.
Abstract:
Renal tubular acidosis (RTA) is characterized by a normal anion gap with hyperchloremic metabolic acidosis. Primary distal RTA (type I) is the most common RTA in children. Childhood presentation of distal RTA includes vomiting, failure to thrive, metabolic acidosis, and hypokalemia. Amelogenesis imperfecta (AI) represents a condition where the dental enamel and oral tissues are affected in an equal manner resulting in the hypoplastic or hypopigmented teeth. We report a 10-year-old girl, previously asymptomatic presented with the hypokalemic paralysis and on work-up found out to have type I RTA. The discoloration of teeth and enamel was diagnosed as AI.
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