Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disease, which is characterized by sparse hair, pear-shaped nose, partial cone-shaped epiphyses of the phalanges of the hand (foot) and brachydactyly. We reported a patient with short stature and special facial features who was admitted to Department of Pediatrics, First Affiliated Hospital, School of Medicine, Shihezi University on January 7, 2021, and diagnosed with TRPS and growth hormone deficiency finally, and performed a literature review. The clinical data, genetic test results and diagnostic process of the pediatric case were analyzed. The gene detection showed that the heterozygous frameshift mutation of TRPS1_ex6 c.2725dupT (p.Cys909Leufs*42) was a new mutation, and defined as a pathogenic variant according to the American College of Medical Genetics and Genomics. The patient was treated with recombinant human growth hormone after the diagnosis, and was found with increased height without treatment-related side effects such as increased intracranial pressure and hypothyroidism during a 14-month follow-up.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease encompassing enzyme deficiencies in the process of adrenal steroidogenesis, which leads to adrenal cortex dysfunction. Hypersecretion of corticotrophin-releasing hormone and insufficient cortisol production often lead to enlarged adrenal glands. Existing studies have reported that most of space-occupying adrenal masses in CAH are benign, only very few are malignant. It is difficult for clinicians to distinguish the nature of space-occupying adrenal masses, and physicians have insufficient experiences in treating the disease. We reported a phenotypically male case of CAH with huge space-occupying adrenal masses and reviewed relevant literature, aiming to provide evidence on the diagnosis and treatment of this disease for clinicians. The space-occupying adrenal masses in CAH often show tumor-like hyperplasia before diagnosis and treatment or effective hormone replacement therapy, but most of them will be significantly reduced or disappear after glucocorticoid replacement therapy. But a follow-up of several years showed that space-occupying adrenal masses in the CAH patient encountered by us had no significant changes and no significant impact on the patient's body, even without effective drug intervention.
Periviable neonates have been implicated in a higher incidence of multi-organ injuries and complications due to the extreme prematurity, which is usually associated with poor prognosis. To date, postnatal management of periviable neonates remains one of the most challenging issues, and has been reported by limited studies. By individualized treatment and intensive care, including effective resuscitation, respiratory and circulatory support, active nutritional support and feeding, prevention and treatment of infection, management of endocrine and metabolic problems, management of preterm-related complications, and individualized nursing such as developmentally supportive care and family integrated care, a periviable baby with gestational age of 230/7 weeks and birth weight of 450 g was successfully rescued by Sichuan Academy of Medical Sciences· Sichuan Provincial People's Hospital. We summarized early postnatal management of this periviable baby and reviewing relevant literature, aiming at providing evidence for improving the survival and prognosis of periviable babies with birth weight <500 g.
Maturity-onset diabetes of the young (MODY) belongs to a kind of monogenic diabetes characterized by pancreatic β-cell dysfunction and high level of genetic heterogeneity. As of August 2022, 14 genes responsible for MODY have been identified clearly. In this paper, a case of suspected MODY was reported. A mutation in the insulin receptor substrate 2 (IRS2) gene was identified by exome sequencing, and also found in 11 family members of the patient. It is proposed that IRS2 gene may be a new candidate gene for MODY, informing the diagnosis and treatment of MODY.
Alport syndrome (AS) is one of the important causes of chronic kidney disease and end-stage renal disease. It is the second most common inherited kidney disease after autosomal dominant polycystic kidney disease. Autosomal dominant inheritance is a very rare mode of inheritance in AS, and patients with autosomal dominant forms of AS (ADAS) were previously reported to progress to end-stage renal disease at a later age. This article reported a patient who was diagnosed with ADAS in the Pediatric Nephrology Department of the First Affiliated Hospital of Henan University of CM on September 5, 2019 because of abnormal urine test findings for 4 years. The clinical data and genetic test results were reviewed. We reported the clinical, renal pathology and gene mutation of a ADAS family caused by the new mutation c.3506-3528del (p.G1169Efs*13) of COL4A4 gene (One family member developed end-stage renal disease at the age of 31). We also summarized the literature reports of Chinese ADAS, and made a comprehensive analysis of the relationship between the gene, clinical phenotype and prognosis of the disease. Due to the low incidence of ADAS, this family report expands the gene mutation spectrum of AS, and helps to improve clinicians' awareness and timely diagnosis and treatment of rare-onset ADAS.
Multiple endocrine adenomatosis type 2A (MEN2A) is a subtype of multiple endocrine adenomatosis type 2, which is clinically characterized by medulloid thyroid carcinoma (MTC) , pheochromocytoma (PHEO) , and hyperparathyroidism, and has been reported to be caused by mutations in the RET proto-oncogene on chromosome 10. We reported a case of MEN2A caused by RET proto-oncogene C634Y mutation, and conducted a pedigree analysis of the patient. Genetic test results showed C634Y mutation in the patient's siblings and their offspring. The diagnosis and treatment of this case in combination with a review of the relevant literature suggest that endocrine gland tests and RET proto-oncogene test should be performed for a patient diagnosed with endocrine adenomatosis to reduce the possibility of misdiagnosis and missed diagnosis, and to achieve early treatment, improve the effect of treatment and the prognosis of patients. In addition, the first- and second-degree relatives of the patient should also be tested for the mutation of the RET proto-oncogene.
Alveolar proteinosis is a rare clinical disease that is easily misdiagnosed due to lack of specific symptoms. There is still no unified protocol for standard treatment of this disease. In this paper, we reported the diagnosis and treatment of one case of atypical alveolar proteinosis. Then we systematically searched relevant studies in Chinese published between January 1989 and September 2021 in databases of CNKI, CQVIP, and Wanfang Data using alveolar proteinosis as the keywords, and did a review of 114 studies involving 866 cases after removing the duplicates and those with incomplete data. Our analysis of the clinical manifestations, diagnosis and treatment of these cases may contribute to enhancing clinicians' understanding of alveolar proteinosis to improve their ability to diagnose and manage the disease.
