گزارش مورد نقص ایمنی توام در کودک ایرانی مبتلا به سندرم کمبود اسفنگوزین فسفات لیاز: تظاهر نادر از بیماری نادر

مقدمه : (فونت B Nazanin ۱۲ (Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS) also called Nephrotic syndrome type ۱۴ (NPHS۱۴) or SGPL۴ deficiency, is a newly recognized autosomal recessive disorder characterized by primary adrenal insufficiency, steroid-resistant nephrotic syndrome, peripheral neuropathy, and ichthyosis. SGPL۱ encodes Sphingosine-۱-phosphate (S۱P) lyase which irreversibly catalyses the cleavage of S۱P in the terminal step of sphingolipid catabolic pathway. هدف : (فونت B Nazanin ۱۲ (SPLIS is a rare disorder with nearly ۵۵ cases identified worldwide. In this report, we aim to present the clinical course of a genetically confirmed SPLIS patient to make pediatricians and primary care physicians more familiar with this rare disorder and establish a basis for national registration of future patients. معرفی بیمار : (فونت B Nazanin ۱۲ (The patient was a ۷-year-old female born to consanguineous parents (first-degree cousins). She was the second of dizygotic twins, born at term after an uneventful pregnancy via caesarean section. Her twin sibling died at ۶ years old after three years of nephrotic syndrome and renal failure. Her another male sibling died at ۱.۵ years old due to unknown cause. Her mother and twin sibling also suffered from hearing impairment and hypothyroidism. She primarily manifested with adrenal insufficiency at ۸ months of age, controlled by fludrocortisone. She was complicated with hypertension and left ventricular hypertrophy. She also suffered from recurrent urinary tract infections and left-sided urinary reflux and was under treatment with prophylactic antibiotics. In the last month, she had one episode of tonic-clonic seizure lasting for ۴-۵ minutes. She had experienced the first episode of edema and massive proteinuria at ۵ years old and after initial renal evaluations was diagnosed with minimal change nephrotic syndrome. She was prescribed prednisolone with partial response. By the age of ۶ years, she developed disturbed liver enzymes. The liver biopsy showed no significant pathologic changes and she received azathioprine for a probable autoimmune hepatitis. One year after diagnosis of nephrotic syndrome, due to the recurrence of edema and lack of response to corticosteroids, she underwent renal biopsy. In the light microscopy, mild dilation in renal tubules along with degenerative changes and RBCs in a few tubules, and in the electron microscopy, mild-to-moderate mesangial IgM deposition were observed.

کلیدواژه ها:

SPLIS ، SGPL۱ ، Nephrotic syndrome ، Adrenal insufficiency ، Combined immunodeficiency