Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Synonyms: Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Familial steroid-resistant nephrotic syndrome with adrenal insufficiency?
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Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
Adrenal Insufficiency United
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Mississippi Metabolics Foundation
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Syndromes Without A Name (SWAN) Australia
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