پسر 13 ساله با Senior-Loken syndrome 4 با علایم هیپوپیتوئیتاریسم، دیستروفی خفیف شبکیه و نفرونوفیتیزیس کلیوی؛ گزارش یک مورد

عنوان انگليسی

13-year-old boy with Senior-Loken syndrome 4 with symptoms of hypopituitarism, mild retinal dystrophy and renal nephrophytosis; A case report

خلاصه انگلیسی

Introduction:: Nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney that is identified based on its different forms of gene mutations. More than 10 percent of NPHP cases can manifest with extrarenal manifestations, including Senior-Loken syndrome (SLSN), mental retardation, liver fibrosis, skeletal changes, etc., and their renal involvement will eventually lead to severe renal failure (ESRD), requiring a kidney transplant. Method & material:: A 13-year-old boy who was referred to the nephrology clinic of Boali Ardabil Hospital about a year ago to find the cause of high creatinine. In the patient's history and subsequent investigations, there were symptoms of hypopituitarism, mild retinal dystrophy, severe osteopenia, mild liver fibrosis, and NPHP. According to the above, to confirm the diagnosis, a WES genetic test (whole exome sequencing) focusing on NPHP genes was requested, and finally, the diagnosis of SLSN4 (NPHP4) was reported. Currently, the mentioned patient is undergoing medical and symptomatic treatment for renal and extrarenal complications of NPHP. Conclusion:: According to the patient's history of polyuria and polydipsia, decreased ability to concentrate urine in the morning sample, lack of edema and hypertension as a sign of kidney failure, and a kidney ultrasound report consistent with the disease, including normal kidney size, kidney cyst, increased renal parenchymal echo, and decreased corticomedullary differentiation, NPHP was presented to the patient, and considering that other extrarenal symptoms of the patient could be justified with this syndrome, a genetic study was performed for the patient, which is an accurate and reliable method of diagnosing NPHP. Finally, SLSN was diagnosed with NPHP4 gene involvement

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