ESPN 51th Annual Meeting

ESPN 2018


 
ADRENAL INSUFFICIENCY IN AN INFANT WITH CONGENITAL NEPHROTIC SYNDROME: NEPHROTIC SYNDROME-14
SEHA SAYGILI 1 NUR CANPOLAT 1 SALİM ÇALIŞKAN 1 EMİNE ATAYAR 2 LALE SEVER 1 FATİH ÖZALTIN 1

1- DEPARTMENT OF PEDIATRICS, DIVISION OF PEDIATRIC NEPHROLOGY, İSTANBUL UNIVERSITY CERRAHPAŞA FACULTY OF MEDICINE, İSTANBUL, TURKEY.
2- Nephrogenetics Laboratory, Dept. of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey
3- Dept. of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey
 
Introduction:

Early detection of adrenal insufficiency can be difficult due to non-specific signs and symptoms on hemodialysis. We will present an infant with congenital nephrotic syndrome (CNS) showing subtle clinical symptoms of adrenal insufficiency during HD sessions and thereafter diagnosed as nephrotic syndrome-14 (NPHS14).

Material and methods:

 A 5-month-old female infant with CNS referred to our clinic to maintain her chronic hemodialysis (HD) program. At the admission, she was anuric. Her weight, height, and head circumference were below the third percentile. Skin examination was normal except a skin tag on the occipital region. Hypotensive, hypoglycemic attacks and autonomic symptoms were observed during the HD sessions. Symptoms persisted despite the conservative treatments.  Endocrine testing revealed low serum cortisol levels (2mg/dL) and ACTH stimulation test showed no appropriate cortisol response, so the patient diagnosed as primary adrenal insufficiency. Serum immunoglobulin levels and lymphocyte subgroup analysis revealed no signs of immunodeficiency. After the initiation of hydrocortisone treatment, blood glucose levels were stabilized. Unfortunately, the patient died from sepsis after gastrostomy tube placement.

Panel screening via next generation sequencing covering well-known genes including NPHS1, NPHS2, LAMB2, PLCE1 and WT1 showed no mutation. We analyzed using Sanger sequencing of all coding exons of SGPL1 for mutations that has been recently associated with the NPHS14, an autosomal recessive syndromic form of a steroid-resistant nephrotic syndrome with multi-systemic manifestations including adrenal insufficiency. A homozygous variation (c.1079G>T; p.G360V) in SGPL1 was found. Both healthy parents were heterozygous for the same variation.

Results:

 xxxx Case Report xxxx 

Conclusions:

Hypotension and recurrent hypoglycaemia may be presenting symptom of adrenal insufficiency in patients on HD. NPHS14 due to SGPL1 mutations should be kept in mind as an important differential diagnosis in patients with the coexistence of adrenal insufficiency and steroid-resistant nephrotic syndrome or CNS.