Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Synonyms: Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency | SPLIS | Sphingosine phosphate lyase insufficiency syndrome
A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable with some cases presenting as severe fetal hydrops while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis primary hypothyroidism hypogonadism immunodeficiency and neurological manifestations (such as cognitive impairment ataxia sensorineural hearing loss or seizures).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Familial steroid-resistant nephrotic syndrome with adrenal insufficiency?
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Advocacy Organizations
Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
Adrenal Insufficiency United
Helping find resources and navigating the health system
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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