Glucokinase deficit and birthweight: does maternal hyperglycemia always meet fetal needs?

AIMS: Many authors do not recommend hypoglycemic treatment during pregnancy in women affected by monogenic diabetes due to heterozygous glucokinase (GCK) mutations (MODY 2) in case of affected fetus, because maternal hyperglycemia would be necessary to achieve a normal birthweight. We aimed to evaluate differences in birthweight between MODY 2 affected children according to the parent who carried the mutation. METHODS: We retrospectively studied 48 MODY 2 affected children, whose mothers did not receive hypoglycemic treatment during pregnancy, divided into two groups according to the presence of the mutation in the mother (group A) or in the father (group B). Data were extracted from the database of the Regional Centre of Pediatric Diabetology of the University of Campania, Naples, collected from 1996 to 2016. We analyzed birthweight and centile birthweight. RESULTS: Percentage of small for gestational age was significantly higher in group B than in group A. We found three large for gestational age in the group that inherited the deficit from the mother, all with the same novel GCK mutation (p.Lys458-Cys461del). CONCLUSIONS: We hypothesize that not all MODY 2 affected fetuses need the same levels of hyperglycemia to have an appropriate growth, maybe because different kinds of GCK mutations may result in different phenotypes. Consequently, a "tailored therapy" of maternal hyperglycemia, based on fetal growth frequently monitored through ultrasounds, is essential in MODY 2 pregnancies.

[Risk factors in calcium urolithiasis]. / Fattori di rischio nell'urolitiasi calcica.

The aim of the study has been to evaluate, retrospectively, if the association of urolithiasis different pathogenetic factors increases stone formation and recurrences. The study included 41 children, 20 males and 21 females, aged 3-15 years, divided into three groups: patients with hypercalciuric or normocalciuric urolithiasis and isolated hypercalciuria. In all of them renal function, blood and urinary pH, serum and urinary electrolytic levels, citraturia (dosed with anenzymatic quantitative method), oxalaturia (enzymatic colorimetric method), urinary glycosaminoglycans (dosed by means of cetylpyridinum chloride precipitation and quantitative analysis) have been considered. Statistical analysis was done using Student's "t"-test, with p < 0.05. In all children with hypercalciuric urolithiasis who during the follow-up presented a decreased citraturia, the number of recurrences increased and was above two. The children who during the follow-up remained hypercalciuric without urolithiasis, in spite of the high familiarity, presented an increased citraturia. In conclusion the association between hypercalciuria and low citraturia increases the risk of stone formation and recurrences in children with calcic urolithiasis.

Effect of interferon-alpha therapy in a patient with common variable immunodeficiency and chronic Epstein-Barr virus infection.

We report an 18-year-old boy with common variable immunodeficiency who presented with splenomegaly as well as left axillary and lateral cervical lymphadenopathy. Main laboratory investigations showed severe thrombocytopenia. Epstein-Barr virus (EBV) DNA was detected in the patient's throat-washing specimens and lymph node biopsy. Lymphocytes from the lymph node biopsy were also positive for EBV nuclear antigen. Serology for EBV and cytomegalovirus was negative. A therapeutic attempt with acyclovir did not influence the course of infection. Six months' treatment with human lymphoblastoid interferon-alpha (IFN alfa) brought about the normalization of clinical and hematologic conditions. Detection on throat-washing specimens carried out 1 year after therapy was negative. Our preliminary experience suggests that human lymphoblastoid IFN-alpha is a valid alternative in therapy of immunodeficient EB virus-infected patients.

Interferon alfa therapy in an infant with juvenile chronic myelogenous leukemia.

We describe an infant with juvenile chronic myelogenous leukemia (JCML), the diagnosis of which was made by the characteristic clinical and hematologic findings. The absence of a related HLA-compatible donor for bone marrow transplantation coupled with the awareness that chemotherapy is usually ineffective prompted our decision to treat the patient with lymphoblastoid interferon-alpha [alpha(Ly)-IFN]. During the 26-month course of treatment with alpha(Ly)-IFN an incomplete regression of hematologic and clinical findings was achieved. The above results, along with the easy administration and absence of considerable side effects, suggest that alpha(Ly)-IFN may be a useful therapeutic tool in patients affected by JCML awaiting bone marrow transplantation.

Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome.

Here we report two children with Aase-Smith syndrome (triphalangeal thumbs and congenital red cell plasia). In vitro growth of erythroid colonies was normal in the first patient and totally absent in the other. In both patients, treatment with glucocorticoids induced remission of anemia. Our results suggest that the different growth patterns of erythroid colonies observed in the two patients could reflect the defect of erythroid differentiation occurring at discrete maturational levels.

Effect of measles-mumps-rubella vaccination on polymorphonuclear neutrophil functions in children.

Adherence, metabolic burst and chemotaxis of polymorphonuclear neutrophils (PMNs) were examined in 15 children before and seven days after measles-mumps-rubella vaccine administration. In all children, PMN functions were significantly reduced on the seventh day. Adherence, metabolic burst and chemotaxis tested in three subjects one month after vaccination had returned to normal values. Only two children presented transient hyperpyrexia. We conclude that measles-mumps-rubella vaccine administration suppresses PMN functions without clinical consequences. This is probably because attenuated strains of vaccine viruses do not replicate in lymphoid tissues as extensively as do wild-type strains.

Macroamylasemia in a 5-year-old girl.

In macroamylasemia, a macromolecular complex consisting of amylase linked to immunoglobulins circulates in the plasma and usually causes benign hyperamylasemia with low or normal amylasuria. Macroamylasemia is extremely rare in pediatric patients as it has been described in only four patients. We report herein the case of a 5-year-old girl with abdominal pain and macroamylasemia. To recognize macroamylase, we used agar gel electrophoresis, PEG precipitation, and fast protein liquid chromatography (FPLC). In our case, FPLC was found to be the most reliable method for the identification of the macromolecular complex. Macroamylasemia is merely a biochemical abnormality that is not associated with any kind of pathology. Its identification is therefore essential in order to avoid a wrong diagnosis, i.e., pancreatitis, with consequent inappropriate therapies.

Decreased adherence of polymorphonuclear neutrophils in children with viral infection.

The adherence of polymorphonuclear neutrophils was examined in 16 children affected by enteritis, pneumonia, hepatitis and infectious mononucleosis. The results were compared with those obtained in 30 healthy adult volunteers and in 15 healthy children of the same age. Adhesiveness was significantly higher in adults than in healthy children, and significantly higher in healthy children than in children with viral infection. In 7 patients tested one month after regression of the disorder, PMN adhesiveness had returned to normal.