Respiratory failure in a patient with hypophosphatemic rickets: can an endobronchial stent make the difference?

Case presentation

The patient, a 21-year-old man, was under follow-up for hypophosphatemic rickets, which had been diagnosed in early childhood. It was complicated by recurrent varus tibial deformities that required multiple corrective surgeries. He had also undergone sleeve surgery for obesity. He was being treated with alpha calcidol, calcium, phosphate and later growth hormone. Despite treatment, his disease had progressed, with the development of hyperparathyroidism, and he was using a wheelchair and dependent on his family for activities of daily living.

The patient was admitted with a complaint of progressive shortness of breath over a month, which in the last 10 days prior to admission was associated with fever and cough productive of whitish sputum. He was initially managed in his local hospital with physiotherapy, antibiotics, supplemental oxygen and positive airway pressure with little improvement. Eventually, he was discharged home on oxygen 5 L/minute. A week later, he presented to the emergency department at our hospital. On examination, he was afebrile, in respiratory distress and using his accessory muscles with subcostal retractions with a respiratory rate of 34 per minute, with blood pressure of 120/72, pulse rate of 120 per minute and oxygen saturation of 88% on 5 L by nasal canula. The patient had gross limb and thoracic deformities, with collapse of the upper region of the thorax on the right side and scoliosis. Upon auscultation, lung sounds were diminished bilaterally, but more so on the right side. Systemic and cardiac examination was unremarkable. Chest radiography showed predominantly ‘Z’ shaped scoliosis with areas of bilateral atelectasis. Computed tomographic scan of the chest with angiogram (CT) showed complete right upper collapse and partial right lower lobe collapse and subsegmental atelectasis in the left lower lobe. There was no evidence of pulmonary embolism. Furthermore, when compared with last CT image performed few months earlier, the new CT scan showed progression of thoracic deformities because of worsening of the scoliosis and rib fracture. Accordingly, the patient was started on high-flow nasal oxygen alternating with bi-level positive airway pressure (BiPAP) and broad-spectrum antibiotics. However, despite these interventions, there was no clinical improvement or reduction in his oxygen requirement.

Thereafter, his case was discussed in a multidisciplinary meeting. As his imaging (Fig 1) showed compression of the right main bronchus between the ribs and spine resulting in total collapse of the right upper lobe and partial collapse of the right lower lobe, bronchoscopic stenting was recommended. It was felt that any surgical intervention would carry a high risk to the patient.

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Fig 1.

CT Chest before (a,b) and after (c,d) the stenting procedure, showing reopening and reaeration of the collapsed right upper lobe.

12 days after admission, bronchoscopic stenting was performed in the operating room with the fluoroscopic guidance under general anesthesia using endotracheal tube (size 7). A fiberoptic therapeutic scope was used to insert 30 × 15 mm Boston metallic uncovered bronchial stent. The procedure was uneventful.

Following the procedure, the patient had gradual improvement with oxygen saturation over 90% on room air. Repeat CT scan chest showed re-expansion of the right lung, particularly right upper lobe (Fig 1). He was discharged 3 days after the stenting procedure with supplemental oxygen as needed and nocturnal BiPAP.

He was followed up in the clinic as an outpatient and remained stable other than one mild infective episode that resolved after few days with antibiotics. His oxygenation normalised on room air and he did not use oxygen or BiPAP when he was seen in his last follow up 14 months after stenting. Imaging also showed stability of the pulmonary condition and the stent remained in position.