Role of magnetic resonance diffusion weighted imaging in diagnosis of diabetic nephropathy in children living with type 1 diabetes mellitus.

OBJECTIVES: Diabetic nephropathy is a serious and a common complication of diabetes that can lead to end stage renal disease among children living with type 1 diabetes, thus an early and accurate method of diagnosis that allows timely intervention is of high importance. This study aimed to evaluate the role of magnetic resonance diffusion weighted imaging in diagnosis of diabetic nephropathy in children with type 1 diabetes. METHODS: This prospective, observational, case control study included 30 children with type 1 diabetes and 30 matched healthy controls attending the outpatient clinics in Mansoura University Children's Hospital. All were subjected to magnetic resonance DWI of the renal parenchyma and their glomerular filtration rate (GFR) was estimated, along with micro albumin in 24 h urine collection and HbA1c in patients with diabetes. RESULTS: Children with diabetes who were positive for microalbuminuria had significantly lower apparent diffusion coefficient value compared to Children with diabetes who were negative for microalbuminuria (p = 0.034) as well as controls (p = 0.001). Among children with type 1 diabetes, apparent diffusion coefficient had significant positive correlation with estimated glomerular filtration rate (r = 0.491, p = 0.006) and negative correlation with microalbuminuria (r = -0.437, p = 0.016). CONCLUSION: Magnetic resonance DWI of the renal parenchyma is correlated with estimated glomerular filtration rate (eGFR) in children with type 1 diabetes and can detect GFR deterioration even in presence of normal albumin excretion.

Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.

AIMS: Neonatal diabetes mellitus (NDM) is a rare disease where diabetes presents during the first six months of life. There are two types of this disorder: permanent neonatal diabetes (PNDM) and transient neonatal diabetes mellitus (TNDM). PNDM occurs due to mutations in genes involved in either beta-cell survival, insulin regulation, and secretion. This study aims to define the genetic aetiology and clinical phenotypes of PNDM in a large Egyptian cohort from a single centre. METHODS: Patients with PNDM who were diagnosed, treated, or referred for follow-up between January 2002 and January 2021 were identified and clinically phenotyped. All patients were tested for mutations in EIF2AK3, KCNJ11, ABCC8, INS, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1B, IER3IP1, PDX1, PTF1A, NEUROD1, NEUROG3, NKX2-2, RFX6, SLC2A2, SLC19A2, STAT3, WFS1, ZFP57 using targeted next-generation sequencing (NGS) panel. INSR gene mutation was tested in one patient who showed clinical features of insulin resistance. RESULTS: Twenty-nine patients from twenty-six families were diagnosed with PNDM. Pathogenic variants were identified in 17/29 patients (59%). EIF2AK3, INS, and KATP channel mutations were the commonest causes with frequency of 17%, 17%, and 14%, respectively. Patients with ABBC8 and KCNJ11 mutations were successfully shifted to sulfonylureas (SU). Paired data of glycosylated haemoglobin before and after SU transfer showed improved glycaemic control; 9.6% versus 7.1%, P = 0.041. CONCLUSIONS: PNDM is a heterogenous disease with variable genotypes and clinical phenotypes among Egyptian patients. EIF2AK3, INS, ABCC8, and KCNJ11 mutations were the commonest causes of PNDM in the study cohort. All patients with KATP channel mutations were effectively treated with glyburide, reflecting the fact that genetic testing for patients with NDM is not only important for diagnosis but also for treatment plan and prognosis.

Pan-vasculitis and fulminant hepatitis following routine vaccination at the age of 4 months.

Vaccines are known to have side effects, most of which are tolerable. Vasculitis following vaccination is reported and has various modes of presentation. We report a 4-month-old girl presented with an unusual presentation of fulminant hepatitis, pan vasculitis, and diffuse body aneurysms following routine immunization diagnosed by echocardiography and computed tomography angiogram. It is important to be aware of different possible adverse effects following vaccines and their different modes of presentation as well as possible treatments such as intravenous immunoglobulins and high dose methylprednisolone.

"Fenofibrate as an adjuvant to phototherapy in pathological unconjugated hyperbilirubinemia in neonates: a randomized control trial."

BACKGROUND: Despite widespread phototherapy usage, many new-born infants remain in need of other invasive lines of therapy, such as intravenous immunoglobulins and exchange transfusions. OBJECTIVE: Assessment of the efficacy and the safety of adding fenofibrate to phototherapy for the treatment of pathological jaundice in full-term infants. DESIGN/METHODS: We conducted a double blinded randomized control study on 180 full-term infants with pathological unconjugated hyperbilirubinemia admitted to the NICU at Mansoura University Children's Hospital. They were randomly assigned to receive either oral fenofibrate 10 mg/kg/day for 1 day or 2 days or placebo in addition to phototherapy. The primary outcome was total serum bilirubin values after 12, 24, 36, 48, and 72 h from intervention. Secondary outcomes were total duration of treatment, need for exchange transfusions and intravenous immunoglobulin, exclusive breast-feeding on discharge, and adverse effects of fenofibrate. This study was registered at www.clinicaltrials.gov (NCT04418180). RESULTS: A total of 180 full-term infants were included, 60 in each group. Infants in group I and II showed significant reduction of bilirubin levels at 36, 48, and 72 h from intervention compared to group III, respectively. Fenofibrate administration was associated with significantly shorter duration of phototherapy, shorter hospital stay, and higher frequency of exclusive breast-feeding compared to phototherapy alone. CONCLUSION(S): Fenofibrate as an adjuvant to phototherapy in term neonate with pathological jaundice is well tolerated and associated with significant reduction of serum bilirubin levels, a shorter duration of phototherapy, shorter hospital stay and higher frequency of exclusive breast-feeding, without significant adverse effects in either the single or double dosage.