Manage | Understanding PBD-ZSD
Manage
Do you know how to Champion your child's peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) needs? Manage

What does it take to manage PBD-ZSD?

Before you can manage PBD-ZSD, you have to evaluate and monitor it

Unfortunately there is no way to stop PBD-ZSD from progressing. But there are ways to support your child and manage their symptoms.

It is important that you work with a multidisciplinary team of doctors who are aware of the latest recommendations for managing the many organs affected by PBD-ZSD. This requires collaboration among a team of specialists.

Icon of a doctor representing a pediatrician—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Pediatrician

Manages your child’s growth, feeding, and nutrition. Your child’s pediatrician will help to coordinate care with your team of doctors.

Icon of a doctor representing a geneticist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Geneticist

Assesses how your child’s specific genetic defect affects him/her and may be most involved in the daily management of your child’s care.

Icon of a doctor representing an otolaryngologist/ENT—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Otolaryngologist (ENT)

Manages any changes to your child’s hearing; also assesses the health and function of the nose and throat.

Icon of a doctor representing an ophthalmologist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Ophthalmologist

Manages the health of your child’s eyes and any changes in vision.

Icon of a doctor representing a neurologist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Neurologist

Manages the health of your child’s nervous system, largely focusing on brain function.

Icon of a doctor representing a hepatologist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Hepatologist

Monitors the liver. In PBD-ZSD, signs of liver damage may go unnoticed without testing, so regular visits to the hepatologist are very important.

Icon of a doctor representing a gastroenterologist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Gastroenterologist

May be involved in managing your child’s liver function, and any nutrition or feeding difficulties he/she may have.

Icon of a doctor representing a nephrologist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Nephrologist

Manages the health and function of your child’s kidneys.

Icon of a doctor representing an endocronologist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Endocrinologist

Manages hormonal imbalances your child may have.

Icon of a doctor representing an orthopedist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Orthopedist

Manages any abnormalities in your child’s bones.

Icon of a doctor representing a dentist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Dentist

Manages problems with your child’s teeth.

Icon of a doctor representing a therapist—one of the specialists patients with Zellweger spectrum disorders may see among their team of doctors.
Therapist

Manages any developmental challenges your child may have, such as muscle control or walking.

Take an active role and Champion how your child's PBD-ZSD is managed

Early detection and treatment of symptoms can help your child

Routine assessments are essential to find new symptoms, evaluate disease progression, and refine management plans

Although current treatments can only help with symptoms and do not cure the disease, they may help improve comfort and quality of life for people with PBD-ZSD.

If your child has PBD-ZSD, it is recommended he/she receives a full-body evaluation at the time of diagnosis. This will let you know how the disease affects your child from the very beginning. Your child should be reevaluated at least every year, if not more frequently, so you will know how the disease progresses and can begin timely therapy for new symptoms.

Have the management and assessment discussions you need

Discussion guide

Select a body system below to see the corresponding specialists and treatment recommendations.

Nutrition
and growth
Specialists

Pediatrician, gastroenterologist, endocrinologist

Recommended tests

Height, weight, and head circumference, nutritional evaluation

What tests look for

Poor growth, feeding difficulties, low levels of fat-soluble vitamins

Treatments

Feeding therapy, behavioral feeding program, G-tube (inserted through the abdomen to deliver nutrients to the stomach), vitamins A, D, E, and K, amino acid-based formulas (elemental)

Hearing
Specialists

Otolaryngologist/ENT

Recommended tests

Hearing testing, brainstem auditory-evoked responses

What tests look for

Hearing loss, deafness

Treatments

Hearing aid, cochlear implant (device placed in ear)

Vision
Specialists

Ophthalmologist

Recommended tests

Ophthalmologic exam, visual fields, fundus photography, optical coherence tomography

What tests look for

Vision loss, eye injury, cataracts, glaucoma

Treatments

Cataract removal, corrective lenses

Neurological
Specialists

Pediatric neurologist

Recommended tests

Brain MRI, electroencephalogram, nerve conduction studies, developmental assessment

What tests look for

Muscle weakness, seizures, brain injury/abnormality

Treatments

Anti-epileptic drugs

Liver
Specialists

Hepatologist, gastroenterologist

Recommended tests

Aspartate aminotransferase, alanine aminotransferase, gamma-glutamyl transpeptidase, bilirubin, albumin, alkaline phosphatase, bile acids (intermediate C27 and mature C24 bile acids), prothrombin time, partial thromboplastin time, abdominal ultrasound

What tests look for

Liver injury/abnormality

Treatments

Primary bile acid supplementation and vitamin K supplementation daily

Kidney
Specialists

Nephrologist

Recommended tests

Serum creatinine, blood urea nitrogen, abdominal ultrasound, urine oxalate

What tests look for

Kidney injury/abnormality

Treatments

Increased fluid intake, urine alkalinization

Hormone levels (adrenal function)
Specialists

Endocrinologist

Recommended tests

Adrenal function tests, early morning (8 AM) cortisol and adrenocorticotropic hormone (ACTH), ACTH stimulation test

What tests look for

Ongoing hormone imbalance

Treatments

Hydrocortisone

Bone
Specialists

Orthopedist

Recommended tests

X-rays, dual-energy X-ray absorptiometry scan, serum calcium and phosphorus, alkaline phosphatase

What tests look for

Bone abnormality, low bone density, unexplained fractures

Treatments

Vitamin D, calcium, bisphosphonate (prevents loss of bone mass)

Teeth
Specialists

Dentist

Recommended tests

Dental exam, X-rays

What tests look for

Tooth defects

Treatments

Bonding (applying a special plastic on damaged teeth), repair of permanent teeth

Control of
movement
Specialists

Developmental/behavioral therapist, teacher of the visually impaired

Recommended tests

Developmental assessment for milestones

What tests look for

Delayed developmental milestones

Treatments

Physical, occupational, speech, and vision therapy

Visit the Resources page for helpful downloads to share with your child's healthcare team

Sign up to stay informed and connected.

Loading...