Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

Murakami, Yasuo; Wataya‐Kaneda, Mari; Tanaka, Mari; Takahashi, Aya; Tsujimura, Akira; Inoue, Koji; Nonomura, Norio; Katayama, Ichiro

doi:10.1159/000358216

Cited by 22 publications

(17 citation statements)

References 23 publications

(31 reference statements)

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“…In the present Chinese BHDS family, one of the two affected individuals, the 67-year-old index patient, met the criteria for the full-blown BHDS clinical triad, including multiple skin lesions, pulmonary bullae and clear cell renal cell carcinoma. To our knowledge, this is the first report of a Chinese BHDS pedigree with renal neoplasms and the fifth report of Asian BHDS cases involving all three phenotypes (19). At present, it is thought that BHDS has only one causative gene, FLCN, with various mutations having been identified along the entire length of the coding region (4).…”

Section: Discussionmentioning

confidence: 99%

Birt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese Family

et al. 2014

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Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis that presents as a clinical triad including follicular hamartomas, renal neoplasms and lung cysts associated with an increased risk of pneumothorax. FLCN gene defects have been identified as being responsible for BHDS. We herein report the case of a 67-year-old woman with the full-blown BHDS phenotype, characterized by skin lesions, multiple lung bullae and renal neoplasms. In her family history, one of the patient's sons exhibited a similar phenotype, without renal neoplasms. Due to the relatively late age of onset of renal neoplasms among variable BHDS phenotypes, follow-up imaging is recommended for the son who has not yet developed renal neoplasms.

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Section: Discussionmentioning

confidence: 99%

Birt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese Family

et al. 2014

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“…24 Other hereditary RCCs include chromosome 3 translocations, 25,26 hereditary leiomyomatosis, 27 hereditary papillary renal cancer, 28 and Birt-Hogg Dube syndrome. 29,30 THE BIOLOGY AND RATIONALE OF CURRENT THERAPEUTICS Prior therapeutic approaches exploited the high level of immunogenicity of RCC and used immunotherapy with IFN and IL-2, but they were associated with severe and unpleasant adverse effects with very modest success. More recently, therapies targeting newly elucidated biochemical pathways have a better response as well as fewer adverse effects.…”

Section: Hereditary Rcc Syndromesmentioning

confidence: 99%

The Nephrologist’s Tumor: Basic Biology and Management of Renal Cell Carcinoma

Chang

Perazella

et al. 2016

JASN

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Kidney cancer, or renal cell carcinoma (RCC), is a disease of increasing incidence that is commonly seen in the general practice of nephrology. However, RCC is underrecognized by the nephrology community, such that its presence in curricula and research by this group is lacking. In the most common form of RCC, clear cell renal cell carcinoma (ccRCC), inactivation of the von Hippel-Lindau tumor suppressor is nearly universal; thus, the biology of ccRCC is characterized by activation of hypoxia-relevant pathways that lead to the associated paraneoplastic syndromes. Therefore, RCC is labeled the internist's tumor. In light of this characterization and multiple other metabolic abnormalities recently associated with ccRCC, it can now be viewed as a metabolic disease. In this review, we discuss the basic biology, pathology, and approaches for treatment of RCC. It is important to distinguish between kidney confinement and distant spread of RCC, because this difference affects diagnostic and therapeutic approaches and patient survival, and it is important to recognize the key interplay between RCC, RCC therapy, and CKD. Better understanding of all aspects of this disease will lead to optimal patient care and more recognition of an increasingly prevalent nephrologic disease, which we now appropriately label the nephrologist's tumor.

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“…The disease has no gender predilection [148], and it typically manifests in the 3rd or 4th decade of life but can affect individuals at any age [149]. Asian patients seem to have a lower incidence of cutaneous and renal manifestations but a higher recurrence rate of pneumothorax than Caucasians [146, 147, 150-152]. …”

Section: Birt-hogg-dubé Syndromementioning

confidence: 99%

Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function

Daccord¹,

Nicod²,

Lazor³

2017

Respiration

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Cystic lung diseases constitute a distinct group of rare lung disorders, among which two result from monogenic defects affecting tumor suppressor genes: lymphangioleiomyomatosis, either sporadic or associated with tuberous sclerosis complex, and Birt-Hogg-Dubé syndrome. These disorders have similarities in their clinical expression, including occurrence in young adults, multiple pulmonary cysts, recurrent pneumothorax, skin hamartomas, and renal tumors. However, they markedly differ in their gender distribution, pathogenesis, disease course, and prognosis. Our knowledge on these two rare conditions is rapidly expanding. Management of lymphangioleiomyomatosis has substantially improved in the past decade with the understanding of its pathogenic mechanisms, the discovery of an effective therapy, and development of large cohorts and international guidelines. Birt-Hogg-Dubé syndrome has been described more recently and still awaits deeper understanding of its pathophysiology.

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Two Japanese Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts, Fibrofolliculomas, and Renal Cell Carcinomas

Cited by 22 publications

References 23 publications

Birt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese Family

Birt-Hogg-Dubé Syndrome with Clear Cell Renal Cell Carcinoma in a Chinese Family

The Nephrologist’s Tumor: Basic Biology and Management of Renal Cell Carcinoma

Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function

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