Renal transplantation in Birt-Hogg-Dubé syndrome: should we?

BACKGROUND: Birt-Hogg-Dubé (BHD) Syndrome is a rare genodermatosis caused by a mutation on folliculin gene, with a strong link to renal cancer. To date few patients with such condition have reached dialysis stage, as nephron-sparing surgery is usually possible at the time of diagnosis. To our best knowledge no patient with BHD syndrome has been submitted to renal transplantation. CASE PRESENTATION: We report the case of a woman diagnosed with multifocal bilateral renal cell carcinoma that underwent bilateral radical nephrectomy and was started on a regular hemodialysis program at the age of 29. While on hemodialysis program she was diagnosed clinically with BHD syndrome and molecular testing confirmed an heterozygous mutation on FLCN gene. The patient has been kept on surveillance program for 2 years with no clinical complications from the genetic syndrome and in complete remission from renal cancer. Though there has not been any report of a patient with BHD being transplanted, risks and benefits for this patient were weighted. She has been considered apt by the transplant team and is currently waitlisted for cadaveric renal transplantation. DISCUSSION: It is a matter of discussion which should be cancer-free period for anephric patients with an inherited cancer syndrome to be candidates for renal transplant. So far BHD syndrome has not been causally associated with any other neoplastic disorder elsewhere. Accepting cancer biology is very complex and knowledge of the behaviour of this genetic syndrome is limited to a few cases reported worldwide, the authors believe that renal transplantation is the best treatment option for this young patient. The choice of post transplantation immunosuppression is debatable, but considering experience in other inherited cancer syndromes a maintenance scheme with mTOR inhibitor will be favoured.

A total pleural covering of absorbable cellulose mesh prevents pneumothorax recurrence in patients with Birt-Hogg-Dubé syndrome.

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pulmonary cysts are innumerable and widely dispersed and cannot all be removed. We recently described a total pleural covering (TPC) that covers the entire visceral pleura with oxidized regenerated cellulose (ORC) mesh. TPC successfully prevented the recurrence of pneumothorax in LAM patients. The purpose of this study was to evaluate the effect of an ORC pleural covering on pneumothorax recurrence in BHDS patients. RESULTS: This retrospective study enrolled a total of 81 pneumothorax patients with the diagnosis of BHDS who underwent 90 covering surgeries from January 2010 to August 2017 at Tamagawa Hospital. During the first half of the study period, a lower pleural covering (LPC) which covered the affected area with ORC mesh was mainly used to treat 38 pneumothoraces. During the second half of the study period, TPC was primarily performed for 52 pneumothoraces. All the thoracoscopic surgeries were successfully performed without serious complications (≥ Clavien-Dindo grade III). The median follow-up periods after LPC/TPC were 66/34 months, respectively. Pneumothorax recurrence rates after LPC at 2.5/5/7.5 years postoperatively were 5.4/12/42%, respectively; none of the patients who had underwent TPC developed postoperative pneumothorax recurrence (P = 0.032). CONCLUSIONS: TPC might be an effective option for surgical treatment of intractable pneumothorax in patients with BHDS.

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

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.

Nephron-sparing surgery for multifocal and hereditary renal tumors.

PURPOSE OF REVIEW: Despite the controversy surrounding the benefits of nephron-sparing surgery, multiple absolute indications for nephron-sparing surgery still exist, including the classic indications of hereditary and bilateral kidney tumors. RECENT FINDINGS: Multiple genetic mutations have been identified which lead to hereditary kidney cancer conditions. These are briefly reviewed because the surgical management of hereditary kidney tumors depends on the genetic and histologic subtypes involved. Clear understanding of these hereditary conditions is crucial for proper surgical management of these tumors. SUMMARY: Complex partial nephrectomy for multiple renal tumors, or multiplex partial nephrectomy, requires not only exceptional surgical skills but expertise of numerous nonsurgical methodologies, such as hands-on intraoperative ultrasonography and interpretation of multiple imaging modalities. In addition, multidisciplinary management is crucial for optimal outcomes in patient care. This review evaluates the most advanced surgical techniques and perioperative management required to successfully care for these challenging cases.

[Birt-Hogg-Dubé syndrome : bilateral oncocytic kidney tumors in a patient]. / Birt-Hogg-Dubé-Syndrom : Bilateraler onkozytischer Hybridtumor der Niere.

We report on a rare case of bilateral oncocytic kidney tumors in a patient with Birt-Hogg-Dubé syndrome (BHD). BHD is an autosomal inherited cancer syndrome associated with multiple kidney tumors, benign cutaneous tumors, and pulmonary cysts with spontaneous pneumothorax. To date about 50 BHD families have been described. Patients are best treated with nephron-sparing surgery. Close follow-up is mandatory because recurrence in previously operated kidneys and metastatic tumor progression can occur. Family members at risk should also early be screened for BHD.