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A Rare Case Report of Neonate with RENI Syndrome

Year: 2025

Type: article

Abstract: RENI syndrome (RENAL, ENDOCRINE, NEUROLOGIC, AND IMMUNE SYNDROME) is an autosomal recessive form of steroid-resistant nephrotic syndrome with multisystemic manifestations such as ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects. It is caused by homozygous or compound heterozygous mutation in the SGPL1 gene causing Sphingosine Phosphate Lyase Insufficiency.We describe a case of full-term neonate who presented with generalized oedema, ichthyosis and multiple orofacial abnormalities since birth which was followed by respiratory distress, feed intolerance, congenital nephrotic syndrome, congenital hypothyroidism and refractory convulsions and eventually refractory shock, all leading to death of the patient.He was diagnosed to be suffering from RENI syndrome through clinical exome sequencing.

Source: International Journal of Science and Research (IJSR)

DOI: 10.21275/sr25501011951

Authors: Gupta Anuradha, Belekar Neelam

Institution: Rajarshee Chhatrapati Shahu Maharaj Government Medical College and CPR Hospital Kolhapur

Language: English

Topic: Renal Diseases and Glomerulopathies

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4410104418