Key Clinical MassageWe present a 27-month-old male infant with pseudohypoaldosteronism, with two novel α-subunits, epithelial sodium channel (ENaC) mutations. Despite the presence of the ENaC in the lungs, kidneys, and exocrine glands, he continues to only have renal and exocrine involvement, stressing differential effects of the mutation in each organ.
serum Na+ 191 mmol/l, BUN 245 mg/dl, Glucose 161 mg/dl, calculated serum osmolality 479 mOsm/l) complicated with prerenal AKI (serum Cr 4.1 mg/dl, and K+ 6.3 mmol/l), anuria, ATN, serum non-conjugated bilirubin of 27 mg/ dl, DIC (INR 2.3, PTT 55 s), and thrombocytopenia (platelet count 33,000/μl). Patient's weight on admission was 2.2 kg, with an estimated weight loss of 43% since birth. She had grayish skin discoloration with surprisingly normal vital signs, lactatemia and normal neurological status. Density of the dural venous sinuses was prominent on brain CT scan, likely reflecting hemoconcentration (Hg 22.5 g/dl). Current literature does not provide clear recommendations for correction of extreme hypertonic dehydration with co-existing life threatening complications. This clinical situation represents a very challenging scenario with potential for severe risks in case of too rapid or slow correction of fluid and electrolyte imbalance, including exacerbation of systemic hypoperfusion with hemodynamic instability, brain edema, dysrhythmias, irreversible kidney injury, cerebral sinus venous thrombosis, and kernicterus. Our therapeutic interventions included two 20-ml/kg NS boluses for peripheral perfusion optimization and then a third 20-ml/kg bolus for anuria. Patient was placed on D5 ½ NS (1.5 maintenance rate based on actual patient's weight), and oral rehydration with pedialyte. Double phototherapy was implemented for the first 12 hrs. No attempt was made at correcting DIC during the first 48 hrs. Patient diuresis was restored during first 5 hrs of therapy. Serum Na+, BUN and Cr levels steadily normalized over the next 96 hrs. Patient neurological status remained intact and she was discharged from the PICU after 7 days of treatment fully recovered.
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