Hipercalcemia hipocalciúrica familiar: Descripción de un caso / Familial hypocalciuric hypercalcemia: A case report

La presencia de hipercalcemia mantenida obliga a realizar pruebas complementarias para determinar su origen. Es benigna y, generalmente, no requiere tratamiento. La secuenciación del gen CaSR confirma el diagnóstico y evita tratamientos innecesarios. Se presenta a un niño de 12 años, asintomático, con hipercalcemia persistente entre 11,4 y 12,2 mg/dl. El padre y dos hermanos tenían hipercalcemia asintomática. El análisis de laboratorio mostró valores de magnesio, fósforo y vitamina D normales y de hormona paratiroidea llamativamente normal para el valor de la hipercalcemia. Indice de calcio/creatinina urinario: 0,11 mg/mg; y calciuria de 24 h: 1,8 mg/kg/día. Ecografía abdominal, paratiroides, radiografías de huesos largos y densitometría ósea, normales. El estudio genético mostró mutación en exón 6 (c.1651A>G) del gen CaSR (en heterocigosis), confirmada en el padre y los hermanos.

The finding of persistent hypercalcemia suggests doing other medical tests to find the cause. Familial hypocalciuric hypercalcemia is usually benign and it requires no treatment. It is important to do CASR gene sequencing to avoid unnecessary treatments. We report a 12-year-old child, asymptomatic, with calcemia between 11.4 and 12.2 mg/dl. His father and two brothers presented asymptomatic hypercalcemia. The blood test with magnesium, phosphorus, 25(OH)Vit D was normal, remarkable normal parathyroid hormone for the level of hypercalcemia. Urinary calcium/creatinine ratio was 0,11 mg/dl and 24-hour urinary calcium was 1,8 mg/kg per day. Abdominal and parathyroid ecography, long bone radiographs and densitometry were normal. Genetic study showed a mutation, c.1651A>G, in exon 6 of the calciumsensing receptor gene, confirmed in father and brothers, too.

Familial hypocalciuric hypercalcemia: A case report. / Hipercalcemia hipocalciúrica familiar: Descripción de un caso.

The finding of persistent hypercalcemia suggests doing other medical tests to find the cause. Familial hypocalciuric hypercalcemia is usually benign and it requires no treatment. It is important to do CASR gene sequencing to avoid unnecessary treatments. We report a 12-year-old child, asymptomatic, with calcemia between 11.4 and 12.2 mg/dl. His father and two brothers presented asymptomatic hypercalcemia. The blood test with magnesium, phosphorus, 25(OH)Vit D was normal, remarkable normal parathyroid hormone for the level of hypercalcemia. Urinary calcium/creatinine ratio was 0,11 mg/dl and 24-hour urinary calcium was 1,8 mg/kg per day. Abdominal and parathyroid ecography, long bone radiographs and densitometry were normal. Genetic study showed a mutation, c.1651A>G, in exon 6 of the calciumsensing receptor gene, confirmed in father and brothers, too.

La presencia de hipercalcemia mantenida obliga a realizar pruebas complementarias para determinar su origen. Es benigna y, generalmente, no requiere tratamiento. La secuenciación del gen CaSR confirma el diagnóstico y evita tratamientos innecesarios. Se presenta a un niño de 12 años, asintomático, con hipercalcemia persistente entre 11,4 y 12,2 mg/dl. El padre y dos hermanos tenían hipercalcemia asintomática. El análisis de laboratorio mostró valores de magnesio, fósforo y vitamina D normales y de hormona paratiroidea llamativamente normal para el valor de la hipercalcemia. Indice de calcio/creatinina urinario: 0,11 mg/mg; y calciuria de 24 h: 1,8 mg/kg/día. Ecografía abdominal, paratiroides, radiografías de huesos largos y densitometría ósea, normales. El estudio genético mostró mutación en exón 6 (c.1651A>G) del gen CaSR (en heterocigosis), confirmada en el padre y los hermanos.

Serum cystatin C levels in preterm newborns in our setting: Correlation with serum creatinine and preterm pathologies.

BACKGROUND: Cystatin C (CysC) is a renal function marker that is not as influenced as creatinine (Cr) by endogenous or exogenous agents, so it is therefore proposed as a marker in preterm infants. OBJECTIVES: To determine serum CysC values in preterm infants during the first week of life, compared to Cr. To analyze alterations caused by prematurity diseases. METHOD: The design involved a longitudinal, observational study of prospective cohorts. Groups were based on gestational age (GA): Group A (24-27 weeks), Group B (28-33 weeks), Group C (34-36 weeks). Blood samples were collected at birth, within 48-72hours and after 7 days of life. STATISTICS: SPSS v.20 software was used. The statistical methods applied included chi-squared test and ANOVA. RESULTS: A total of 109 preterm infants were included in the study. CysC levels were: 1.54mg/L (±0.28) at birth; 1.38mg/L (±0.36) within 48-72hours of life; 1.50mg/L (±0.31) after 7 days (p<0.05). Cr levels were: 0.64mg/dL (±0.17) at birth; 0.64mg/dL (±0.28) within 48-72hours; 0.56mg/dL (±0.19) after 7 days (P<.05). CysC values were lower in hypotensive patients and those with a respiratory disease (P<.05), and no alterations associated with other diseases were observed. There were no differences in Cr levels associated with any disease. Creatinine levels were higher in patients ≤1.500g (P<.05). CONCLUSIONS: Serum CysC decreased within 48-72hours of life, and this decline showed significance (P<.05). The levels increased after 7 days in all 3 GA groups, and there was no difference in CysC levels among the groups. More studies in preterm infants with hypotension and respiratory disease are required. CysC is a better glomerular filtration (GF) marker in ≤1.500g preterm infants.

Valores de cistatina C sérica en recién nacidos pretérmino en nuestro medio. Relación con valores de creatinina sérica y patologías de la prematuridad / Serum cystatin C levels in preterm newborns in our setting: Correlation with serum creatinine and preterm pathologies

Antecedentes: La cistatina C (CisC) es un marcador de función renal no tan influenciado como la creatinina (Cr) por agentes endógenos o exógenos, por lo que se propone como marcador en el pretérmino. Objetivos: Determinar valores de CisC sérica en pretérminos en la primera semana de vida, comparándola con la Cr. Analizar modificaciones por patologías de la prematuridad. Método: Estudio longitudinal, observacional, de cohortes prospectivo. Grupos por edad gestacional (EG): grupo A (24-27 semanas), grupo B (28-33 semanas), grupo C (34-36 semanas). Se recogieron muestras de sangre al nacimiento, a las 48-72h y a los 7días. Estadística: Programa SPSS v.20. Métodos estadísticos utilizados χ2 y ANOVA. Resultados: N=109 pretérminos. CisC al nacimiento: 1,54mg/l (±0,28), a las 48-72h de vida: 1,38mg/l (±0,36), a los 7días: 1,50mg/l (±0,31) (p<0,05). Cr al nacimiento: 0,64mg/dl (±0,17), a las 48-72h: 0,64mg/dl (±0,28), a los 7días: 0,56mg/dl (±0,19) (p<0,05). Valores de CisC más bajos en pacientes con patología respiratoria e hipotensos (p<0,05) sin modificación según patologías restantes. No diferencias en valores de Cr según patología. Valores de creatinina más altos en pacientes ≤1.500g (p<0,05). Conclusiones: Descenso de CisC sérica a las 48-72h de vida, siendo esta caída en el tiempo significativa (p<0,05), ascenso a los 7días, en los 3 grupos de EG y sin diferencias en valores de CisC entre los grupos. Se requieren más estudios en pretérminos con patología respiratoria y situaciones de hipotensión. En ≤1.500g la CisC es mejor marcador de filtrado glomerular (FG) (AU)

Background: Cystatin C (CysC) is a renal function marker that is not as influenced as creatinine (Cr) by endogenous or exogenous agents, so it is therefore proposed as a marker in preterm infants. Objectives: To determine serum CysC values in preterm infants during the first week of life, compared to Cr. To analyze alterations caused by prematurity diseases. Method: The design involved a longitudinal, observational study of prospective cohorts. Groups were based on gestational age (GA): Group A (24-27 weeks), Group B (28-33 weeks), Group C (34-36 weeks). Blood samples were collected at birth, within 48-72hours and after 7 days of life. Statistics: SPSS v.20 software was used. The statistical methods applied included chi-squared test and ANOVA. Results: A total of 109 preterm infants were included in the study. CysC levels were: 1.54mg/L (±0.28) at birth; 1.38mg/L (±0.36) within 48-72hours of life; 1.50mg/L (±0.31) after 7 days (p<0.05). Cr levels were: 0.64mg/dL (±0.17) at birth; 0.64mg/dL (±0.28) within 48-72hours; 0.56mg/dL (±0.19) after 7 days (P<.05). CysC values were lower in hypotensive patients and those with a respiratory disease (P<.05), and no alterations associated with other diseases were observed. There were no differences in Cr levels associated with any disease. Creatinine levels were higher in patients ≤1.500g (P<.05). Conclusions: Serum CysC decreased within 48-72hours of life, and this decline showed significance (P<.05). The levels increased after 7 days in all 3 GA groups, and there was no difference in CysC levels among the groups. More studies in preterm infants with hypotension and respiratory disease are required. CysC is a better glomerular filtration (GF) marker in ≤1.500g preterm infants (AU)

La consulta única o de alta resolución como una alternativa de eficiencia a las consultas externas hospitalarias tradicionales / Unique or high resolution consultation as an efficiency alternative to conventional hospital outpatients consultations

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