Table 7. [Recommended Surveillance for Individuals with Sphingosine Phosphate Lyase Insufficiency Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Steroid-resistant nephrotic syndrome	For those w/known kidney disease: Urine protein/creatinine Nephrology follow up	Per treating nephrologist
For those w/o known kidney disease	Annual urine protein/creatinine if w/o known disease Annual blood pressure
Primary adrenal insufficiency	Early morning ACTH, serum cortisol (thereafter ACTH stimulation test if baseline results borderline/abnormal), electrolytes, & plasma renin activity	Clinical review & analysis every 6-12 mos; in addition, consider before any major procedure.
Hypothyroidism	Free T4, TSH	Annually
Testicular insufficiency	Clinical review w/close assessment of pubertal progression, further investigation if delayed onset or poor progression	Annually
Immunodeficiency	Ongoing eval of lymphocyte count & immune function	Every 6-12 mos or more frequent if ongoing infections or other concerns
Feeding/Nutrition	Monitor growth on age- & sex-appropriate curve.	Standard intervals for well-child check-ups; more frequent weight checks if growth rate ↓
Neurologic involvement	Neurologic exam for new manifestations &/or progression	At least annually
Musculoskeletal/ Mobility/ADL	OT/PT assessment
Hearing	Audiogram	At least annually
Speech	Speech & language pathologist
Development / Educational needs	Monitor developmental progress & educational needs.
Ichthyosis	Photograph lesion & measure for monitoring; optional skin biopsy	As needed
Miscellaneous/ Other	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.	At each visit

System/Concern

Evaluation

Frequency

Steroid-resistant
nephrotic syndrome

For those w/known kidney disease:

Urine protein/creatinine
Nephrology follow up

Per treating nephrologist

For those w/o known kidney disease

Annual urine protein/creatinine if w/o known disease
Annual blood pressure

Primary adrenal
insufficiency

Early morning ACTH, serum cortisol (thereafter ACTH stimulation test if baseline results borderline/abnormal), electrolytes, & plasma renin activity

Clinical review & analysis every 6-12 mos; in addition, consider before any major procedure.

Hypothyroidism

Free T4, TSH

Annually

Testicular
insufficiency

Clinical review w/close assessment of pubertal progression, further investigation if delayed onset or poor progression

Annually

Immunodeficiency

Ongoing eval of lymphocyte count & immune function

Every 6-12 mos or more frequent if ongoing infections or other concerns

Feeding/Nutrition

Monitor growth on age- & sex-appropriate curve.

Standard intervals for well-child check-ups; more frequent weight checks if growth rate ↓

Neurologic
involvement

Neurologic exam for new manifestations &/or progression

At least annually

Musculoskeletal/
Mobility/ADL

OT/PT assessment

Hearing

Audiogram

At least annually

Speech

Speech & language pathologist

Development /
Educational needs

Monitor developmental progress & educational needs.

Ichthyosis

Photograph lesion & measure for monitoring; optional skin biopsy

As needed

Miscellaneous/
Other

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

At each visit

From: Sphingosine Phosphate Lyase Insufficiency Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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