Chronic atrial and intestinal dysrythmia syndrome: A late-onset intestinal pseudo-obstruction and cardiac dysfunction due to an SGO1 mutation
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View abstract on PubMed
Summary
This summary is machine-generated.Pediatric intestinal pseudo-obstruction (PIPO) linked to SGO1 mutations presents later than typical PIPO. This condition requires lifelong monitoring for cardiac and intestinal complications, with long-term outcomes still under investigation.
Area Of Science
- Genetics
- Pediatric Gastroenterology
- Cardiology
Background
- Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal motility disorder.
- Chronic atrial and intestinal dysrhythmia (CAID) syndrome, linked to SGO1 mutations, affects both cardiac and intestinal function.
- Understanding the clinical spectrum of SGO1-associated PIPO is crucial for patient management.
Purpose Of The Study
- To characterize the clinical, nutritional, and outcome features of pediatric patients with homozygous SGO1 (p.Lys23Glu) mutation.
- To investigate the association between SGO1 mutations and PIPO presentation and progression.
- To evaluate the long-term prognosis and management needs for this rare condition.
Main Methods
- Retrospective enrollment of pediatric patients (<18 years) with PIPO and homozygous SGO1 (p.Lys23Glu) mutation.
- Clinical data collection including onset, diagnostic findings (imaging, manometry, biopsy), nutritional support, and cardiac assessments.
- Longitudinal follow-up to assess outcomes and complications.
Main Results
- Eight patients (5 female) with PIPO and homozygous SGO1 (p.Lys23Glu) mutation were identified, presenting at a median age of 6.3 years.
- All patients showed massive bowel distension; manometry revealed neuropathic patterns, and biopsies showed smooth muscle fibrosis and abnormal Cajal cells.
- Five patients required ileostomy, and all needed parenteral nutrition, with one achieving independence off PN by age 18. Three developed sinus dysfunction requiring pacemakers; one patient died from cardiac complications.
Conclusions
- Homozygous SGO1 (p.Lys23Glu) mutation causes a late-onset form of PIPO associated with sinus node dysfunction.
- Long-term outcomes remain uncertain, necessitating comprehensive cardiac, intestinal, and neurological follow-up.
- Cerebral small vessel disease, observed in adults, warrants consideration in long-term patient monitoring.
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