Patient is a 6-year-old girl with Caroli Syndrome, autosomal recessive polycystic kidney disease, and end-stage renal disease (ESRD) status postbilateral nephrectomy on hemodialysis. In addition, she has chronic liver disease with portal hypertension. She was born by C-section at 30 weeks' gestation to a 37-year-old G4P2A1 mother with pregnancy complicated by late prenatal care:last 6 weeks of pregnancy. Due to subglottic stenosis secondary to chronic mechanical ventilation and dysphagia, she required tracheostomy tube placement and gastrostomy, respectively. At baseline, she was on room air via capped tracheal cannula during the day and tracheostomy collar while asleep. Patient presented to the emergency department with 2-week history of hypoxemia even after resolution of a viral illness that required brief hospitalization. Patient required oxygen via a Heat Moisture Exchanger (HME) with T-oxygen connector at 1-2 LPM continuously. She had increased tracheal secretions, which grew E. coli ESBL that was treated with 10 days of tobramycin and 7 days of meropenem based on sensitivities. Nephrology Department was consulted and ruled out volume overload as her cause of oxygen requirements. Pulmonary Department was consulted to evaluate additional sources of hypoxemia.
On physical examination, patient was noted to be awake, alert, and in no apparent distress. Respiratory examination revealed symmetric air entry, with no signs of increased work of breathing. There were transmitted central airway rhonchi throughout but no wheezes or crackles. Abdominal exam revealed distension, no tenderness, normoactive bowel sounds, hepatomegaly, and splenomegaly.
Laboratory results were as follows: WBC: 7.6, Hgb: 9.7, Hct: 29.7, and platelets: 184 with a differential of neutrophiles: 42.7, monocytes: 11.8, lymphocytes: 44.3, and eosinophils: 1.0. Metabolic panel was normal. AST was 20 units/L, ALT was 16 units/L. CRP level was <2.9. HBsAg was negative. Prealbumin was 28.5 mg/dL. PT was 15 s, PTT was 31.8 s, and INR was 1.16. Chest X-ray showed stable cardiomegaly with decreased pulmonary vascular congestion and no pulmonary edema. Due to hepatomegaly, an abdominal ultrasound elastography was performed that showed moderate-to-severe stiffness of the liver with a moderate amount of ascites in the right and left lower quadrants. An abdominal CT scan showed mild biliary ductal dilatation and ascites associated with portal hypertension/hepatic cirrhosis, which is consistent with her history of Caroli Syndrome. An arterial blood gas on room air showed pH: 7.43, PCO2: 50, PO2: 51, HCO3: 33, BE: 8, and Sat: 87% with a calculated A-a gradient of 36 mmHg (normal < 15). A two-dimensional bubble-contrast echocardiography revealed the presence of bubbles in the left atrium at seven cardiac cycles after the right atrium, which is consistent with pulmonary recirculation (Figure 1). No intracardiac shunts were detected. A contrast bubble-echocardiogram, performed 2 months previously, showed normal findings. Technetium-99 macroaggregate albumin study was not obtained.
Patient was discharged with supplemental oxygen as needed by tracheostomy collar. Given the diagnosis of HPS, her status was prioritized on the liver-kidney transplantation waitlist.