Table 5.

Treatment of Manifestations in Individuals with PI4KA-Related Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Limb spasticity
& motor delays
  • PT, OT, use of appropriate mobility aids
  • Medical mgmt may incl baclofen (incl intrathecal baclofen), diazepam, & intramuscular botulinum toxin.
Spasticity may → joint contractures & scoliosis.
Speech impairment Speech-language therapy; use of communication aids (e.g., talker)
Intellectual disability Educational support
Seizures Use of standard anti-seizure medications; dependent on specific seizure type
Dysphagia
  • Speech-language therapy
  • Gastrostomy as needed
Multiple intestinal
atresia (MIA)
  • There is no known treatment for MIA.
  • Parenteral nutrition
  • Intestinal transplant may be considered but is assoc w/high mortality rate.
  • Since there is no established cure, quality of life is an important consideration. In children w/poor prognosis due to MIA, palliative approaches may be considered.
In one infant w/PI4KA-related MIA, IBD & small bowel stenosis recurred following surgical resection. 1, 2
Inflammatory bowel
disease (IBD)
  • Standard anti-inflammatory medications & dietary mgmt established for treatment of IBD incl: immunosuppressants, steroids, & antibody therapies
  • Surgery may be required for treatment-resistant disease & to remove obstructions.
Note: Traditional IBD therapies do little to treat intestinal disease in TTC7A-related MIA or very early-onset IBD. 2
Immunodeficiency
  • Identification of the nature of immune dysfunction should inform clinical mgmt.
  • HSCT may correct immune defects & ↑ survival in persons w/severe immunodeficiency.
  • Note: HSCT does not appear to improve phenotypes related to intestinal epithelial defects in TTC7A-related disease; graft-vs-host disease & sepsis are potential complications that may exacerbate intestinal disease. 2
  • Decision making should also incl burden of treatment in children w/ID.
Hearing Standard treatment for hearing issues
Vision Treatment per ophthalmologist

ID = intellectual disability; HSCT = hematopoietic stem cell transplantation; OT = occupational therapy; PT = physical therapy

1.

Note: Surgical bowel resections in individuals w/TTC7A-related MIA do not prevent the formation of new atresias.

2.

Due to the phenotypic and mechanistic overlap between TTC7A- and PI4KA-related bowel disease, this information may be applicable to PI4KA-related disorder.

From: PI4KA-Related Disorder

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