Characteristics of pulmonary cysts in Birt–Hogg–Dubé syndrome: Thin-section CT findings of the chest in 12 patients

Tobino, Kazunori; Gunji, Yoshio; Kurihara, Masatoshi; Kunogi, Makiko; Koike, Kengo; Tomiyama, Noriyuki; Johkoh, Takeshi; Kodama, Yuzo; Iwakami, Shin‐ichiro; Kikkawa, Mika; Takahashi, Kazuhisa; Seyama, Kuniaki

doi:10.1016/j.ejrad.2009.09.004

Cited by 125 publications

(91 citation statements)

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“…[38][39][40][41][42][43][44][45][46][47][48][49][50][51] BHD is caused by germline mutations in the BHD gene, which encodes FLCN, a 64KDa protein, expressed in most tissues. 52 Since the discovery of the FLCN gene, diverse FLCN-related cellular functions have been reported.…”

Section: The Paradoxical Role Of Ampk In Glycogen Metabolismmentioning

confidence: 99%

Glycogen: A must have storage to survive stressful emergencies

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2016

Worm

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Mechanisms of adaptation to acute changes in osmolarity are fundamental for life. When exposed to hyperosmotic stress, cells and organisms utilize conserved strategies to prevent water loss and maintain cellular integrity and viability. The production of glycerol is a common strategy utilized by the nematode Caenorhabditis elegans (C. elegans) and many other organisms to survive hyperosmotic stress. Specifically, the transcriptional upregulation of glycerol-3-phosphate dehydrogenase, a rate-limiting enzyme in the production of glycerol, has been previously implicated in many model organisms. However, what fuels this massive and rapid production of glycerol upon hyperosmotic stress has not been clearly elucidated. We have recently discovered an AMPK-dependent pathway that mediates hyperosmotic stress resistance in C. elegans. Specifically, we demonstrated that the chronic activation of AMPK leads to glycogen accumulation, which under hyperosmotic stress exposure, is rapidly degraded to mediate glycerol production. Importantly, we demonstrate that this strategy is utilized by flcn-1 mutant C. elegans nematodes in an AMPKdependent manner. FLCN-1 is the worm homolog of the human renal tumor suppressor Folliculin (FLCN) responsible for the Birt-Hogg-Dub e neoplastic syndrome. Here, we comment on the dual role for glycogen in stress resistance: it serves as an energy store and a fuel for osmolyte production. We further discuss the potential utilization of this mechanism by organisms in general and by human cancer cells in order to survive harsh environmental conditions and notably hyperosmotic stress.

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Section: The Paradoxical Role Of Ampk In Glycogen Metabolismmentioning

confidence: 99%

Glycogen: A must have storage to survive stressful emergencies

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2016

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“…In that study, they showed that the number of lung cysts were significantly associated with spontaneous pneumothoraces. Tobino et al [6] reported that most lung cysts were small (<1 cm) and most commonly affected the lower medial zone. They described that approximately 40±12% of lung cysts bordered pleura.…”

Section: Discussionmentioning

confidence: 99%

Cystic Lung Disease in Birt-Hogg-Dubé Syndrome: A Case Series of Three Patients

Kılınçer¹,

Arıyürek²,

Karabulut³

2014

EAJM

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Birt-Hogg-Dubé syndrome is characterized by clinical manifestations such as hamartomas of the skin, renal tumors and lung cysts with spontaneous pneumothoraces. Patients with Birt-Hogg-Dubé syndrome may present with only multiple lung cysts. We report the chest computerized tomography (CT) features of three patients with BirtHogg-Dubé syndrome. Each patient had multiple lung cysts of various sizes according to chest CT evaluation, most of which were located in lower lobes and related to pleura. The identification of unique characteristics in the chest CT of patients with Birt-Hogg-Dubé syndrome may provide an efficient mechanism for diagnosis. Key Words: Birt-Hogg-Dubé syndrome, chest CT, lung cyst ÖzetBirt-Hogg-Dubé sendromu, klinik olarak deri hamartomları, renal tü-mörler ve spontan pnömotoraksla birlikte olan akciğer kistleri ile karakterizedir. Birt-Hogg-Dubé sendromu tanısı alan hastalarda sadece multipl akciğer kistleri olabilir. Biz burada Birt-Hogg-Dubé sendromlu üç hastada toraks bilgisayarlı tomografi (BT) bulgularını sunduk. Toraks BT incelemesinde tüm hastalarda farklı boyutlarda çok sayıda akciğer kisti vardı. Kistlerin çoğu alt loblarda ve plevra ile ilişkiliydi. Toraks BT bulguları, bu sendromun rastlantısal tanısı için önemli bir yol gösterici olabilir.

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“…Additionally, these bullae exhibit thin-walled, round-to oval-shaped, various sizes, and some of them abut to peripheral pulmonary vessels. 4,12,13) These peculiar properties of BHDS cysts make standard surgical procedures for resecting bullae with a surgical stapler or ligating bullae very complicated. Thus, pneumothorax with BHDS is prone to recur intractably.…”

Section: Discussionmentioning

confidence: 99%

“…3) These cysts appear predominantly at the lower-medial zone of the lung field and adjacent to the interlobar fissure but sometimes abut peripheral pulmonary vessels. 4,5) Thus, the conventional surgical approach in which all subpleural cysts and bullae are resected is not feasible for the management of pneumothorax in BHDS. Here, we describe a patient with BHDS whose recurrent pneumothorax was successfully resolved by applying a pleural covering technique during thoracoscopic surgery.…”

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Pleural Covering Application for Recurrent Pneumothorax in a Patient with Birt-Hogg-Dubé Syndrome

Ebana

Otsuji

Mizobuchi

et al. 2016

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IntroductionBirt-Hogg-Dubé syndrome (BHDS), a hereditary genodermatosis caused by a germline folliculin (FLCN) mutation, was first described in 1975 and 1977. 1,2) The thoracic manifestations of this syndrome are multiple lung cysts and pneumothorax with frequent recurrences. 3) These cysts appear predominantly at the lower-medial zone of the lung field and adjacent to the interlobar fissure but sometimes abut peripheral pulmonary vessels. 4,5) Thus, the conventional surgical approach in which all subpleural cysts and bullae are resected is not feasible for the management of pneumothorax in BHDS. Here, we describe a patient with BHDS whose recurrent pneumothorax was successfully resolved by applying a pleural covering technique during thoracoscopic surgery. 6) This procedure was effective in preventing further recurrence. Case ReportA 30-year-old male presented at the emergency department of our hospital, complaining of a sudden left-sided chest pain. A chest X-ray and computed tomography showed collapse of the left lung and multiple lung cysts. He was diagnosed with left-sided pneumothorax and treated with the insertion of a portable drainage kit Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary disease that presents with multiple lung cysts and recurrent pneumothorax. These cysts occupy predominantly the lower-medial zone of the lung field adjacent to the interlobar fissure, and some of them abut peripheral pulmonary vessels. For the surgical management of pneumothorax with BHDS, the conventional approach of resecting all subpleural cysts and bullae is not feasible. Thus, after handling several bullae by using a stapler or performing ligation as a standardized treatment, we applied to a pleural covering technique to thicken the affected visceral pleura and then to prevent recurrence of pneumothorax. We herein report the successful application of a pleural covering technique via thoracoscopic surgery to treat the recurrent pneumothorax of a 30-year-old man with BHDS. This technique is promising for the management of intractable pneumothorax secondary to BHDS.Keywords: Birt-Hogg-Dubé syndrome, multiple lung cysts, recurrent pneumothorax, thoracoscopic surgery H, et al. (Thoracic Egg ® , Sumitomo Bakelite CO., Ltd. Tokyo, Japan), that enables to manage him in a setting of outpatient clinic. One-week after insertion of the tube, resolution of the pneumothorax enabled removal of the chest drainage tube. The patient was an ex-smoker (10 packs/ year) but had no medical problems in the past. However, a noteworthy comment was that his father and brother had medical histories of pneumothorax. Since this patient had a family history of pneumothorax and had multiple lung cysts localized predominantly at the lower-medial zone of the lung fields (Fig. 1), a diagnosis of BHDS was strongly suspected. Genetic testing was performed using peripheral blood leucocytes, and then demonstrated that he had an insertion of cytosine (C) in exon 11 of the FLCN gene (c.1285dupC), thereby confirming the diagnosis. Subsequently, afte...

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Characteristics of pulmonary cysts in Birt–Hogg–Dubé syndrome: Thin-section CT findings of the chest in 12 patients

Cited by 125 publications

References 21 publications

Glycogen: A must have storage to survive stressful emergencies

Glycogen: A must have storage to survive stressful emergencies

Cystic Lung Disease in Birt-Hogg-Dubé Syndrome: A Case Series of Three Patients

Pleural Covering Application for Recurrent Pneumothorax in a Patient with Birt-Hogg-Dubé Syndrome

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