Living with Sphingosine phosphate lyase insufficiency syndrome
A very rare genetic condition that affects the kidneys, adrenal glands and nervous system.
Understanding Sphingosine phosphate lyase insufficiency syndrome
Most people have signs of kidney and adrenal gland problems, such as fluid buildup, vomiting and diarrhea. Some have dry, scaly or darkened skin and immune system problems. Some have nervous system problems, such as hearing loss, a drooping eyelid, tingling in the arms and legs, or seizures. Diagnosis is based on symptoms, an exam and genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney disease with protein leaking (nephrotic syndrome)
- Dry, scaly skin (ichthyosis)
- Patchy darkened skin
- Underactive thyroid
- Global developmental delay
- Hearing loss (less common)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists and kidney specialists.
- 3Consider genetic testing
Changes in SGPL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
NephCure Kidney International may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: NephCure Kidney International
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with NephCure Kidney International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is caused by changes in the SGPL1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: familial steroid-resistant nephrotic syndrome with adrenal insufficiency; Nephrotic syndrome 14; nephrotic syndrome, type 14; primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency; renal, endocrine, neurologic and immune syndrome; renal, endocrine, neurologic, and immune syndrome
Patient organizations
- NephCure Kidney InternationalSphingosine phosphate lyase insufficiency syndrome · United States
- The Nephrotic Syndrome FoundationSphingosine phosphate lyase insufficiency syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sphingosine phosphate lyase insufficiency syndrome.
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