Hipofosforemia precoz en recién nacidos de riesgo. Frecuencia y magnitud / Early hypophosphataemia in at risk newborns. Frequency and magnitude

OBJETIVO: Conocer la frecuencia y la magnitud de la hipofosforemia neonatal (< 4 mg/dl) en una UCIN y definir los grupos de riesgo. PACIENTES Y MÉTODOS: Estudio retrospectivo en neonatos hospitalizados, en periodo de 44 meses (fase 1). Estudio retrospectivo en < 1.500 g/< 32 semanas de gestación en período posterior de 6 meses (fase 2). Estudio prospectivo en < 1.500 g o CIR con peso 1.500-2.000 g. Determinaciones en días 1, 3, 7 y 14 de vida (fase 3). RESULTADOS: Fase 1: 34 de 1.394 pacientes (2,4%) fueron diagnosticados de hipofosforemia, 76% de ellos ≤ 32 semanas de gestación y < 1.500 g, y 24% > 32 semanas con peso < P10. Fase 2: 12 de 73 pacientes (16,4%) fueron diagnosticados de hipofosforemia, 5 (6,8%) con hipofosofremia< 2mg/dl. De ellos 8 fueron CIR y 4 < 1.000 g. Cinco pacientes asociaron hipopotasemia y 3 hipercalcemia. Fase 3: 9 de 20 pacientes (45%) presentaron hipofosforemia, todos < 1.000 g o con peso al nacer < 1.200 g y percentil < 10. El 33% de las muestras de los días 1, 3 y 7 mostraron hipofosforemia, < 2 mg/dl en 4 muestras. Asociaron hipopotasemia leve 5 casos (55%) e hipercalcemia leve 2 (22%). La hipofosforemia se asoció a menor nutrición enteral y más aporte parenteral de aminoácidos en los primeros días. CONCLUSIONES: La hipofosforemia es frecuente y puede ser crítica en la primera semana en prematuros < 1.000 g y en los nacidos con desnutrición fetal y peso < 1.200 g que reciben aminoácidos en la nutrición parenteral precoz

OBJECTIVE: To determine the frequency and magnitude of neonatal hypophosphataemia (< 4 mg/dL) in a neonatal Intensive Care Unit and to describe risk groups. PATIENTS AND METHODS: Retrospective study of hospitalised newborns over a 44 month period (phase 1). Retrospective study of < 1,500g /< 32 weeks of gestation newborns over a 6 month period (phase 2). Prospective study of < 1,500 g or 1,550-2,000 g, and intrauterine growth restriction (IUGR) newborns. Measurements were made on the 1st, 3rd, 7th, and 14th days of life (phase 3). RESULTS: Phase 1: 34 (2.4%) of 1,394 patients had a diagnosis of hypophosphataemia, 76% of them ≤ 32 weeks of gestation and < 1500 grams, and 24% > 32 weeks with weight < P10. Phase 2: 12 (16.4%) of 73 patients had a diagnosis of hypophosphataemia, with < 2 mg/dL in 5 (6.8%). Eight (75%) of those with hypophosphataemia had IUGR, and 4 (25%) weighed < 1,000 g. Five cases had associated hypokalaemia, and three hypercalcaemia. Phase 3: 9 (45%) of 20 patients had hypophosphataemia, all of them < 1,000 g or < 1,200 g and weight percentile < 10. Thirty-three percent of samples on days 1, 3, and 7 showed hypophosphataemia, four of them < 2mg/dL. There was mild hypokalaemia in 5 (55%), and mild hypercalcaemia in 2 (22%) cases. Hypophosphataemia was associated with lower enteral nutrition and higher parenteral amino acid intake in the early days of life. CONCLUSIONS: Hypophosphataemia is common, and can be severe, in the first week of life in premature infants < 1,000 grams, and newborns < 1,200 g with foetal malnutrition and receiving amino acids in early parenteral nutrition

[Early hypophosphataemia in at risk newborns. Frequency and magnitude]. / Hipofosforemia precoz en recién nacidos de riesgo. Frecuencia y magnitud.

OBJECTIVE: To determine the frequency and magnitude of neonatal hypophosphataemia (<4mg/dL) in a neonatal Intensive Care Unit and to describe risk groups. PATIENTS AND METHODS: Retrospective study of hospitalised newborns over a 44 month period (phase 1). Retrospective study of <1,500g/<32 weeks of gestation newborns over a 6 month period (phase 2). Prospective study of <1,500g or 1,550-2,000g, and intrauterine growth restriction (IUGR) newborns. Measurements were made on the 1st, 3rd, 7th, and 14th days of life (phase 3). RESULTS: Phase 1: 34 (2.4%) of 1,394 patients had a diagnosis of hypophosphataemia, 76% of them ≤32 weeks of gestation and <1500 grams, and 24% >32 weeks with weight

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developmental delay, seizures, round face with a prominent nose, micro/retrognathia, half-opened mouth, short neck, hand/foot malformations, hernia, congenital heart malformations, and abnormal external genitalia. The deletion spanned ∼18.6 Mb and included a total of 68 OMIM protein coding genes. We have reviewed 17 cases previously described in the literature and in DECIPHER involving the chromosomal region 1p31.1p31.3. Only 3 of these affect the whole region, 9 are partial deletions of this region, and 5 are much smaller deletions. Taking into account the MORBID ID and the haploinsufficiency score of the genes, we go on to propose which genes may explain particular clinical features observed in the patient. IL23R may be responsible for the craniosynostosis, FOXD2 for the renal anomalies, LHX8 for closure defects of the palate, and ST6GALNAC3 for skin anomalies. In summary, we have identified a chromosome 1p31.1p31.3 deletion in a patient with an atypical presentation of craniosynostosis amongst other more typical features observed in individuals with similar deletions.