ACTA ENDOCRINOLOGICA (BUC)

Context. Diabetes insipidus (DI) is rare in the neonatal period but of great importance due to increased renal risk and mental retardation despite treatment. Objective. This report describes the case of a patient with congenital nephrogenic diabetes insipidus (NDI). Detection of this pathology during the neonatal period, especially in premature newborns, is difficult because of the electrolyte variations that occur as a result of the immature kidney function. Subjects and methods. The subject was a preterm infant with very low birth weight (VLBW) and persistent hypernatremic hyperosmolarity that developed polyuria and polydipsia in the first weeks of life. Results. Taking into account blood and urine laboratory tests, vasopressin levels, as well as family history, the infant was diagnosed with congenital NDI. Early treatment allowed a good development, proving that the prevention of long-term complications is possible through multidisciplinary care and frequent monitoring. The particularity of this case was the presence of persistently elevated presepsin levels. This association prompted the investigation into underlying renal hypernatremia. Conclusions. NDI is a rare condition and the onset in the neonatal period is a sign of severity and hereditary causality. Early diagnosis, symptomatic treatment and multidisciplinary monitoring may decrease the risk of longterm complications.

The underlying mechanisms for endocrine disturbances in patients with kidney alterations are complex. Aim. To provide better longitudinal follow-up of children, especially to check their progress through puberty. Material and methods. A prospective study was conducted at the “Louis Turcanu” Emergency Hospital for Children in Timisoara, Romania during 01.01.2022- 31.12.2024. The study population included ten pediatric patients with end stage renal disease (ESRD) on hemodialysis. Data were collected from the electronic medical records and included demographic information and relevant laboratory parameters, which reflect the patients’ anemia status, inflammation, mineral metabolism and other endocrine abnormalities. Results. Erythropoietin doses ranged from 87 to 176 units/kg once a week at the beginning of our study, higher than guidelines recommendations. Most patients presented with hemoglobin levels below the normal range which slightly increased over the 3 years period. Vitamin D levels ranged from 8.1 to 55.8 ng/mL. These resulted in a poor control of the mineral bone disease associated with kidney failure. Conclusions. The loss of kidney function is associated with an impaired control of phosphor-calcium balance, and anemia, growth and pubertal delay in children. This study highlights the need for individualized treatment plans and a multidisciplinary approach in pediatric patients with ESRD.

Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.