Congenital Nephrotic Syndrome (Finnish Type)
Patient Presentation:
K.S. was a 1 month old male who presented to the pediatric clinic with respiratory distress. The patient’s mother reported that over the last day he had been breathing more rapidly than normal. She also reported decreased oral intake, increased fussiness, “puffiness” around his eyes and a 1 week history of a “runny nose”. K.S. was born at 35 weeks gestation by normal spontaneous vaginal delivery following an uncomplicated pregnancy. He spent 1.5 weeks in the NICU for respiratory distress and feeding difficulties following delivery. Upon exam, K.S. was noted to be tachypneic (RR 84) with nasal flaring, grunting, and mild substernal and supraclavicular retractions. On auscultation, coarse crackles were heard at the apices and breath sounds were diminished at the bases bilaterally. Clear rhinorrhea was also present. Additional findings included elevated blood pressure (115/68), 2+ generalized pitting edema and 3+ periorbital edema. S1 and S2 were heard with no murmurs, rubs, or gallops. Capillary refill of less than 3 seconds was noted.
Differential List:
Congenital nephrotic syndrome, coarctation of the aorta, patent ductus arteriosus, renal artery stenosis
Diagnosis:
Significant laboratory test results:
CMP: Na+ 128mEq/L, K+ 6.8 mEq/L, Ca++ 7.8mg/dL, PO4 6.8 mg/dL, Cl- 111 mEq/L, total protein 3.1 g/dL, albumin 1.7 g/dL, Serum IgG 89mg/dL (normal range is 176-201 mg/dL), Creatinine: 0.3 mg/dL.
CBC: Hgb 15.2 g/dL, Hct 46%, Platelets 859, WBCs 6.1
UA: Urine dipstick: 3+ protein present, Random urine protein/creatinine ratio: 110 mg/mg.
Radiographic studies: Chest x-ray showed bilateral pleural effusion
Renal biopsy showed diffuse mesangial proliferation
Analysis of NPHS1 gene confirmed diagnosis of congenital nephrotic syndrome (Finnish Type)
Treatment:
K.S. was admitted to the NICU and underwent a thoracotomy to treat his bilateral pleural effusion. He was started on twice daily albumin infusions followed by Lasix® to address his hypoalbuminemia and resulting edema. He was also started on celecoxib to reduce protein loss and candesartan, enalapril and clonidine to control his blood pressure. He was also started on a prophylactic antibiotic regimen due to his low serum IgG level and resulting increased susceptibility to bacterial infections. At approximately 2 months of age, K.S. was transferred from the NICU to the inpatient pediatric ward where he continued essentially the same medication regimen. Attempts were made to decrease the frequency of albumin infusions without success. At 4 months of age, K.S. underwent a right nephrectomy. Following the nephrectomy, the frequency of albumin infusions was decreased successfully to 3 times a week and the patient was discharged to home care.
Outcome:
K.S. continues to have a complicated course with frequent hospital admissions for fluid overload and infections. The only effective long term treatment for congenital nephrotic syndrome is kidney transplantation.
Case created by Karen Sanchez, 2012.