This is a one-month-old male of Moroccan origin who came to the emergency room for vomiting, food refusal and abdominal discomfort for 4 days.
The pregnancy was controlled without any obstetric or perinatal history of interest, born at term and with a weight appropriate to their gestational age.
The examination revealed a regular general condition, cutaneous-mucosal rigidity and generalized edema predominantly in the lower limbs.
A grade IV systolic murmur/VI polyposis was observed.
The abdomen was distended, with presence of superficial venous network and ascites.
Laboratory tests showed normocytic normochromic anemia, leukocytosis with normal formula, creatinine lower than 0.2mg/dl and urea 10mg/dl, increased cholesterol and triglycerides, and decreased total protein and serum albumin.
Parathyroid hormone was slightly elevated.
Urine showed proteinuria in nephrotic range with proteinuria/creatinine index of 33.7.
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Suspicion of CNS nutrition was suspected. Intensive diuretic and antiproteinuric therapy, antithrombotic prophylaxis, adjuvant treatment with alphacalcidiol, iron, calcium carbonate and hyperproteic enteral formula were initiated.
She required treatment with seroalbumin and erythropoietin.
The cardiological study diagnosed moderate valvular pulmonary stenosis and atrial septal defect.
The genetic study found Frameft type mutations for the NPHS1 gene, Intronic Variant type for the NPHS2 gene and Missense type for the WT1 gene.
At three months of age she was readmitted for seizure status secondary to severe hypocalcemia.
Due to the high intravenous calcium intake required for its control through a peripheral venous access, there was a third degree cleft not requiring cutaneous graft placement.
He required intensive care on two occasions at 4 and 6 months of age due to sepsis secondary to Staphylococcus hominis and Enterococcus faecalis, respectively, which were resolved with empirical antibiotic therapy and later according to antibiogram.
Finally, at 8 months of age, the patient died due to bilateral pneumothorax-associated pneumonia resulting in refractory hypoxemia.
