Prevalence and association of diabetic nephropathy in newly diagnosed Chinese patients with diabetes in the Hebei province: A single-center case-control study.

Diabetes is a chronic disease and has huge pressure on patients and the medical system, especially for patients with diabetic complications, for example, diabetic nephropathy. Diabetic nephropathy is a diabetic complication associated with damage to the kidney. To improve the quality of life of patients with diabetes, it is necessary to understand the factors that are associated with diabetic nephropathy. The objective of the study was to find the prevalence of diabetic nephropathy in newly diagnosed patients with diabetes and to develop the association between clinicopathological parameters and diabetic nephropathy. In a case-control study, demographics, anthropometric, and clinicopathological parameters of a total of 305 newly diagnosed patients with diabetes (the fasting blood glucose ≥ 7.0 mM/L and/or glycosylated hemoglobin ≥ 6.5 mM/L) in Hebei province were included in the analysis. If the urine albumin to creatinine ratio was ≥ 30 (microalbuminuria) then patients were considered diabetic nephropathy. Among enrolled patients, 206 (68%) were males and 99 (32%) were females and they were 46 to 71 years old. Demographic variables and health-related behaviors were the same among patients with diabetes either with nephropathy (case group, n = 135) or patients without nephropathy (control group, n = 170, P > .05 for all). The prevalence of diabetic nephropathy was 44%. Female to male ratio was 1:1.7 in the case group. Patients with diabetic nephropathy had higher body weight (P < .0001), waist circumference (P = .0006), and body mass index (P = .0002) than those of patients without nephropathy. Abnormal urinary globulin (P = .041, odd ratio (OR): 1.1231) was associated with diabetic nephropathy. Aspartate transaminase (P = .0651, OR: 0.8541), alkaline phosphatase (P = .0661, OR: 0.8122), hypertension (P = .0821, OR: 0.8214), and blood urea nitrogen (P = .0842, OR: 0.9411) were not significantly associated with diabetic neuropathy. However, they are near the statistical cutoff value. The prevalence of diabetic nephropathy in newly diagnosed diabetic patients of Hebei province is higher than those of the other provinces. Urinary globulin excretion had a weak association with the presence of nephropathy defined by urinary albumin excretion in patients with diabetes. The presence of other diabetic complications is also an essential parameter for diabetic nephropathy. Males are more susceptible to diabetic nephropathy than females if diabetic (Evidence Level: V; Technical Efficacy: Stage 3).

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.

A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP), a severe neurovisceral, autosomal dominant disorder with low penetrance. Even though in-depth investigations of the HMBS variants have been carried out by researchers in Britain, France, Russia, and Sweden, this area remains uninvestigated in China owing to the rarity and lack of clinical understanding of the disease. In this study, 78 unrelated AIP patients revealed 48 different HMBS variants, of which 17 were novel. These included 22 missense variants, 9 splicings, 5 nonsense variants, 10 small deletions, 1 repeat insertion, and 1 complex deletion-insertion variant. The variant c.673C > T, found in 10 unrelated patients, was the most frequent variant, followed by the variant c.517C > T, found in 7 unrelated patients. We performed western blotting and immunofluorescence staining with four novel variants (c.653G > A, c.597dupC, c.726-727del, and c.1045_1046delAA) to detect the expression levels of mutant HMBSs. The results showed a variant-mediated decrease in the mutant-HMBS level, suggesting that the variant resulted in impaired gene product functions. Moreover, the in vitro functional verification in this study provided PS3_moderate evidence for American College of Medical Genetics and Genomics (ACMG) to grade the pathogenicity of novel variants in AIP.

The challenge of managing comorbidities: a case report of primary Sjogren's syndrome in a patient with acute intermittent porphyria.

Acute intermittent porphyria (AIP) is a rare inherited metabolic disease associated with heme metabolism. Primary Sjogren's syndrome (PSS) is a common autoimmune disease. The combined presence of AIP and PSS complicates treatment. A rare case of concomitant AIP and PSS is reported in this paper. A 30-year-old woman with AIP had recurrent acute abdominal pain, nausea and vomiting, constipation, persistent chest, back, and waist pain, red urine, positivity for porphobilinogen (PBG) in urine and a pathogenic mutation of the HMBS gene. Two and a half years after she was diagnosed with AIP, she was diagnosed with PSS based on dryness of the eyes and mouth, the elevation of immunoglobulins (IgG and IgA) and positive results on an anti-SS-A antibody test, an anti-SS-B antibody test, Schirmer's test and a labial gland biopsy. A mutation in the HMBS gene was detected in the patient and her cousin, but the patient had more severe AIP and more severe symptoms (such as epilepsy and a limp), which may be related to the co-morbidity of PSS. According to her PSS activity score, the patient had an ESSDAI score of 9 and required systemic treatment. However, potential medications were limited by AIP, so mycophenolate mofetil was eventually added to delay the progression of the primary disease.

An extremely rare combination of acute intermittent porphyria and Turner syndrome.

A very rare case of acute intermittent porphyria (AIP) co-existing Turner syndrome (TS) is reported for the first time. A 32-year-old woman was diagnosed with AIP due to recurrent acute abdominal pain, red urine and pathogenic mutation of Hydroxymethyl synthetase (HMBS) gene. At the same time, TS was confirmed by Karyotype analysis results of 46,X,i(X)(q10), which accompanied by primary amenorrhea, elevated serum concentrations of follicle-stimulating hormone (FSH). Since the first attack of AIP, the patient has been increasingly depressed, and Psychiatry identified major depression. Duloxetine was chosen after careful deliberation, and the patient's mood stabilized. AIP had not recurred after half a year. Since sex hormones are the exacerbating factor of acute attack of AIP, sex hormone replacement therapy for TS was not administered. In conclusion, the conditions of AIP co-existing TS are complicate, and the treatment still needs to be improved by multiple disciplines in the follow-up.