CONGENITAL NEPHROGENIC DIABETES INSIPIDUS IN A PRETERM INFANT: CASE PRESENTATION.

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 long-term complications.

PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.

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-month-old 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.

Neonatal hypoglycemia screening in newborns from diabetic mothers--arguments and controversies.

The most important known metabolic complication of the newborns from diabetic mothers, including diabetes type 1 and 2 and gestational diabetes, is the postnatal hypoglycemia. If unrecognized and undiagnosed, hypoglycemia in this particular high-risk group can determine severe neurological lesions and even death, in a significantly higher proportion than those from the general population. The present paper brings arguments for the crucial importance of screening for post-natal hypoglycemia in the early hours after birth, and discusses the management strategies and the topics that still remain in debate.

Assessment of acid-base balance at birth in newborns from diabetic mothers.

Newborns from diabetic mothers are more frequently born prematurely, large for the gestational age, with difficult respiratory adaptation and risk of RDS (respiratory distress syndrome) and, subsequently, exposed to a higher risk of perinatal distress, hypoxia, metabolic stress and hematologic alterations. Comparing the status at birth of 120 newborns from mothers with diabetes, with 120 controls from uncomplicated pregnancies, over a period of 4 years, in a specialized tertiary center, no significant differences in the immediate outcome of such newborns and similar incidence of hypoxia at birth were shown, as illustrated by the parameters of the acid-base balance (cord pH, BE and HCO3). However, there are significant differences in the route of delivery, with a predominance of C-section deliveries in the diabetic group (4 out of every 5 cases), which might be an important contribution to the relative good status of these newborns at birth. Although balanced at birth, the newborns from diabetic mothers need intensive monitoring and care in the subsequent hours after birth, for important risks such as hypoglycemic episodes.