Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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