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Your search keyword '"Liao, Lin"' showing total 13 results
Start Over Author "Liao, Lin" Journal frontiers in endocrinology
13 results on '"Liao, Lin"'

7. Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis

Author

Ge, Shenghui, Yang, Mengge, Gong, Wenfeng, Chen, Wenzhe, Dong, Jianjun, and Liao, Lin

Subjects
Endocrinology, Diabetes and Metabolism
Abstract

BackgroundMaturity-onset diabetes of the young 5 (MODY5), a rare diabetes syndrome of young adults, is associated with variants in hepatocyte nuclear factor 1B (HNF1B) gene.Case PresentationWe reported a case of MODY5, which presented with diabetic ketosis, multiple renal cysts, and hypokalemia. In this case, the HNF1B score was estimated as 13 and a heterozygous variant of HNF1B in exon 4 (c.826C>T, p.Arg276*) was identified through Sanger sequencing.ConclusionsMultiple renal cysts and youth-onset diabetes are common manifestations in patients with HNF1B mutations, and insufficient insulin secretion may be a potential cause of diabetic ketosis in MODY5.

Published
2022

13. The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.

Author

Sun J, Ding L, He L, Fu H, Li R, Feng J, Dong J, and Liao L

Subjects
Humans, Female, Adult, Male, Cushing Syndrome genetics, Cushing Syndrome surgery, Cushing Syndrome diagnosis, Carney Complex genetics, Carney Complex diagnosis, Young Adult, Osteoporosis genetics, Mutation, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit genetics, Adrenal Cortex Diseases genetics, Adrenal Cortex Diseases pathology
Abstract

Aims: Primary pigmented nodular adrenocortical disease (PPNAD), as a rare kind of Cushing's syndrome, is frequently misdiagnosed. To get a better understanding of the disease, we analyzed the clinical characteristics and pathogenic variants of PPNAD., Methods: Databases were searched, and the pathogenic variants and clinical manifestations of patients were summarized from the relevant articles., Results: A total of 210 patients in 86 articles were enrolled with a median age of 22 and a female-to-male ratio of 2:1. Sixty-six (31.43%) patients were combined with Carney complex (CNC) and 94.29% were combined with osteoporosis/osteopenia. Among 151 patients who underwent genetic testing, 87.42% (132/151) had pathogenic variants. Six gene mutations ( PRKAR1A , PDE11A , PRKACA , CTNNB1 , PDE8B , and ARMC5 ) were detected in the patients. The most common mutation was PKAR1A, accounting for 79.47% (120/151). There was a significant correlation between PRKAR1A pathogenic variant and spotty skin pigmentation in CNC concurrent with PPNAD ( p < 0.05). Among pregnant patients with PPNAD, those without surgical treatment and with bilateral adrenalectomy suffered from a high-risk perinatal period. However, patients with unilateral adrenalectomy presented a safe perinatal period., Conclusions: For young patients with Cushing's syndrome, especially female patients with spotty skin pigmentation and osteoporosis/osteopenia, PPNAD should be considered. Unilateral adrenal resection may be considered as an option for women with fertility needs. In view of the difficulty of PPNAD diagnosis, genetic testing before surgery might be a reasonable option. Patients with PPNAD with spotty skin pigmentation should consider the PRKAR1A pathogenic variant and pay attention to CNC., Systematic Review Registration: https://www.crd.york.ac.uk/prospero, identifier CRD42023416988., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Sun, Ding, He, Fu, Li, Feng, Dong and Liao.)

Published
2024
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