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Kidney Week

Abstract: PO1278

Recurrent Pneumothorax in a Marfanoid Adolescent with Autosomal Dominant Polycystic Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic

Author

  • Miller, Allison, Legacy Health System, Portland, Oregon, United States
Introduction

Pneumothorax may be a rare extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD), and may indicate co-inheritance of other genetic diseases.

Case Description

A 21 year-old man with ADPKD and pneumothoraces presented to nephrology clinic. A screening ultrasound in late childhood was completed due to his family history and confirmed ADPKD. The patient was normotensive and had a tall, thin habitus. His musculoskeletal examination was pertinent for several marfanoid findings, including increased arm span ratios, pes planus, and positive thumb and wrist signs. His eGFR was normal and he did not have proteinuria. He was hospitalized several times between ages 13-20 for recurrent pneumothoraces requiring left apical wedge and lower bleb resections with pleurectomy, and right upper lobectomy and pleurectomy.

Discussion

The patient’s lung collapse was attributed to primary spontaneous pneumothorax due to his tall stature and intermittent tobacco use. However, this cannot account for his high rate of recurrence. The extent of pneumothorax burden in this patient should be considered in context of his underlying polycystic renal disease. Pulmonary manifestations of ADPKD are not well understood and have only been described in a handful of case reports. Bronchiectasis and cystic lung disease are thought to occur as a downstream consequence of impaired parenchymal healing. Mutated polycystin-1 in ADPKD prevents normal ciliary function, which is imperative for coordination of cellular repair in bronchial smooth muscle cells. Evolving cystic lung disease in the setting of underlying ADPKD could explain this patient’s recurrent pneumothoraces.

The possibility of a co-inherited connective tissue disease should also be considered in patients with ADPKD and pneumothoraces. “Overlap” disorders between ADPKD, Marfan syndrome and Tuberous Sclerosis (TSC) have been examined in linkage studies, and have chromosomal proximity. Marfan syndrome and TSC are associated with pneumothorax. Though our patient did not manifest criteria for TSC, his examination is consistent with a Marfan’s variant phenotype. This patient may be an example of co-inherited disease, and raises the question of whether it is under this circumstance that rare pulmonary complications become apparent. Clinicians should be aware of these overlap disorders in relation to ADPKD.