LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations
Navya Kanderi1,2, Brian Kirmse3, Debra S Regier1
1Children's National Rare Disease Institute, Washington, DC, United States of America.
Insights
LPIN1 deficiency causes severe rhabdomyolysis in children. This study details clinical findings and treatment outcomes, leading to standardized care recommendations for this rare genetic disorder.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Lipin 1 (LPIN1) deficiency is a rare genetic disorder.
- It is characterized by early-onset, recurrent, and potentially life-threatening rhabdomyolysis.
- The full clinical spectrum and optimal management strategies remain incompletely understood.
Purpose of the Study:
- To report the clinical characteristics and treatment outcomes of six patients with LPIN1 deficiency.
- To compare different treatment approaches observed across multiple healthcare centers.
- To develop standardized care recommendations for LPIN1 deficiency.
Main Methods:
- Retrospective review of clinical data from six patients with LPIN1 deficiency.
- Analysis of hospitalization duration, peak creatinine kinase (CK) levels, and liver enzyme (AST, ALT) trends.
- Comparison of treatment strategies and outcomes from different institutions.
Main Results:
- The average age of presentation was 23.8 months, with prolonged hospitalizations (average 11.7 days).
- Peak CK levels averaged over 600,000 U/L, with AST paralleling CK elevation and resolution.
- Rhabdomyolysis occurred sometimes without apparent viral or traumatic triggers, differing from historical reports.
Conclusions:
- LPIN1 deficiency presents with severe rhabdomyolysis in early childhood.
- Standardized care recommendations are crucial for managing this condition.
- Further research is needed to fully elucidate the phenotypic spectrum and optimize therapeutic interventions.
Abstract:
Individuals with LPIN1 deficiency have early recurrent, life-threatening rhabdomyolysis but the full phenotypic spectrum and optimal treatment of the disorder remains unknown. Here we report the clinical details and treatment outcomes of 6 patients from our health system. The average age of presentation in our cohort was 23.8 months ±11.6 months (range 15-46 months). The average number of days for each hospitalization for this cohort is 11.7±13.2 days. Creatinine kinase (CK) levels peak during our care averaged 607,725 units/L (range 157,000-1,100,000 units/L). We observed that aspartate aminotransferase levels paralleled the CK levels in its elevation and resolution (Pearson's correlation R = 0.995); while alanine aminotransferase paralleled the elevation but lagged in the resolution of CK levels (R = 0.728). Unlike historical accounts, in our patient population, rhabdomyolysis was sometimes seen without inciting viral or traumatic events. We also cared for multiple individuals that had received treatment at other centers. This allowed us to compare multiple practice approaches and led to a standardized Care Recommendations.
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