Reni Syndrome: Difference between revisions
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==OVERVIEW== | '''Editor In Chief:''' [[C. Michael Gibson, M.S., M.D.]] ; '''Associate Editor(s)-in-Chief:''' [[Alara E. Dagsali]] | ||
=='''OVERVIEW'''== | |||
RENI syndrome (RENI) is a genetic condition characterized by steroid-resistant nephrotic syndrome and a range of multisystemic manifestations. The autosomal inheritance association was first reported by [[Prasad et. al]] and [[Lovric et. al]] in 2017. In 2017, Prasad found that the homozygous loss-of-function mutations in the SGLP-1 gene are causing the RENI syndrome. | RENI syndrome (RENI) is a genetic condition characterized by steroid-resistant nephrotic syndrome and a range of multisystemic manifestations. The autosomal inheritance association was first reported by [[Prasad et. al]] and [[Lovric et. al]] in 2017. In 2017, Prasad found that the homozygous loss-of-function mutations in the SGLP-1 gene are causing the RENI syndrome. | ||
==PATHOPHYSIOLOGY== | =='''PATHOPHYSIOLOGY'''== | ||
RENI syndrome is a rare genetic disorder caused by mutations in the SGPL1 gene. These mutations result in the loss of a protein that regulates a signaling molecule in the body. As a result, patients with RENI syndrome experience problems in their kidneys, adrenal glands, and skin. The mutations disrupt the balance of certain lipid molecules, affecting the immune system and various body tissues. Multiple studies have provided evidence linking SGPL1 gene mutations to this disorder. | RENI syndrome is a rare genetic disorder caused by mutations in the SGPL1 gene. These mutations result in the loss of a protein that regulates a signaling molecule in the body. As a result, patients with RENI syndrome experience problems in their kidneys, adrenal glands, and skin. The mutations disrupt the balance of certain lipid molecules, affecting the immune system and various body tissues. Multiple studies have provided evidence linking SGPL1 gene mutations to this disorder. | ||
==CAUSES== | =='''CAUSES'''== | ||
*Researchers identified mutations in the SGPL1 gene in multiple patients with RENI syndrome. These mutations are responsible for the disorder and are often homozygous or compound heterozygous, meaning that the affected individuals inherit two mutated copies of the gene. | |||
* Researchers identified mutations in the SGPL1 gene in multiple patients with RENI syndrome. These mutations are responsible for the disorder and are often homozygous or compound heterozygous, meaning that the affected individuals inherit two mutated copies of the gene. | |||
*The mutations in the SGPL1 gene lead to a loss of function of the SGPL1 protein and its enzyme activity. This protein plays a role in regulating the levels of a signaling molecule called S1P. | *The mutations in the SGPL1 gene lead to a loss of function of the SGPL1 protein and its enzyme activity. This protein plays a role in regulating the levels of a signaling molecule called S1P. | ||
Revision as of 16:28, 23 October 2023
Editor In Chief: C. Michael Gibson, M.S., M.D. ; Associate Editor(s)-in-Chief: Alara E. Dagsali
OVERVIEW
RENI syndrome (RENI) is a genetic condition characterized by steroid-resistant nephrotic syndrome and a range of multisystemic manifestations. The autosomal inheritance association was first reported by Prasad et. al and Lovric et. al in 2017. In 2017, Prasad found that the homozygous loss-of-function mutations in the SGLP-1 gene are causing the RENI syndrome.
PATHOPHYSIOLOGY
RENI syndrome is a rare genetic disorder caused by mutations in the SGPL1 gene. These mutations result in the loss of a protein that regulates a signaling molecule in the body. As a result, patients with RENI syndrome experience problems in their kidneys, adrenal glands, and skin. The mutations disrupt the balance of certain lipid molecules, affecting the immune system and various body tissues. Multiple studies have provided evidence linking SGPL1 gene mutations to this disorder.
CAUSES
- Researchers identified mutations in the SGPL1 gene in multiple patients with RENI syndrome. These mutations are responsible for the disorder and are often homozygous or compound heterozygous, meaning that the affected individuals inherit two mutated copies of the gene.
- The mutations in the SGPL1 gene lead to a loss of function of the SGPL1 protein and its enzyme activity. This protein plays a role in regulating the levels of a signaling molecule called S1P.
- SGPL1 deficiency affects various tissues in the body, including the adrenal glands, leading to adrenal insufficiency. It can also cause kidney problems and skin-related issues like ichthyosis.
- Changes in S1P metabolism due to SGPL1 mutations have systemic effects, including the accumulation of certain sphingolipid intermediates like ceramides.
- The mutations in SGPL1 can result in alterations in sphingolipid levels, which affect T-cell egress and play a crucial role in various tissues, especially the kidney.
- The types of SGPL1 mutations identified include frameshift, splice site, missense, and truncating mutations, all of which lead to reduced or absent SGPL1 protein and enzyme activity.
- Several studies discussed in the text confirm the association between SGPL1 mutations and RENI syndrome, with functional studies and genetic analyses supporting this link.