Taponamiento cardiaco como forma de inicio de fiebre mediterránea familiar con herencia autosómica dominante / Cardiac tamponade as first manifestation in mediterranean fever with autosomal dominant form

La fiebre mediterránea familiar (FMF) es una enfermedad hereditaria que se caracteriza por episodios breves y recurrentes de fiebre y dolor por inflamación de una o varias serosas (peritoneo, pleura, pericardio, sinovial o túnica vaginal del testículo). La amiloidosis es su complicación más importante y suele ser la principal causa de muerte en los casos en que se presenta. El diagnóstico se basa en la clínica y se confirma mediante pruebas genéticas. Para el tratamiento, se utiliza colchicina a 0,02-0,03 mg/kg/día, que permite tanto evitar la crisis como el desarrollo de la insuficiencia la renal. Presentamos el caso de un niño de 13 años en el que se diagnosticó FMF tras varios episodios coincidentes con fiebre de pericarditis con taponamiento cardiaco. La confirmación genética mostró un patrón de herencia poco frecuente autosómico dominante

Familial Mediterranean fever (FMF) is a hereditary disease characterized by brief, recurring and self-limited episodes of fever and pain with inflammation, of one or several serous (peritoneum, pleura, pericardium, synovial or vaginal tunic of the testicle). Amyloidosis is its more important complication and the principal reason of death in the cases in which it appears. Diagnosis is based on the clinic and is confirmed by genetic tests. The treatment with Colchicine (0,02-0,03 mg/kg/day) prevents the recurrence of FMF attacks and the development of secondary (AA) amyloidosis. We report a case of a 13-year-old child in which FMF was diagnosed after several coincidental episodes with fever, pericarditis and cardiac tamponade. The genetic confirmation showed an autosomal dominant inheritance that is less frecuent than the recesive form, in this disease

[Cardiac tamponade as first manifestation in Mediterranean fever with autosomal dominant form]. / Taponamiento cardiaco como forma de inicio de fiebre mediterránea familiar con herencia autosómica dominante.

Familial Mediterranean fever (FMF) is a hereditary disease characterized by brief, recurring and self-limited episodes of fever and pain with inflammation, of one or several serous (peritoneum, pleura, pericardium, synovial or vaginal tunic of the testicle). Amyloidosis is its more important complication and the principal reason of death in the cases in which it appears. Diagnosis is based on the clinic and is confirmed by genetic tests. The treatment with Colchicine (0,02-0,03 mg/kg/day) prevents the recurrence of FMF attacks and the development of secondary (AA) amyloidosis. We report a case of a 13-year-old child in which FMF was diagnosed after several coincidental episodes with fever, pericarditis and cardiac tamponade. The genetic confirmation showed an autosomal dominant inheritance that is less frecuent than the recesive form, in this disease.

Phenotypic analysis and growth response to different growth hormone treatment schedules in two siblings with an inactivating mutation in the growth hormone-releasing hormone receptor gene.

Mutations in the GHRH receptor (GHRHR) gene (GHRHR) are emerging as a common cause of familial isolated growth hormone deficiency (IGHD) type IB. The use of gonadotropin-releasing hormone (GnRH) analogues has been advocated as a tool to delay puberty in patients with isolated GH deficiency (IGHD), allowing longer time for the beneficial effect of exogenous human GH (hGH) treatment on growth. We describe two male siblings with IGHD due to a homozygous missense GHRHR mutation who, because they were started on hGH therapy at different ages, presented with different height SDS at the onset of puberty and therefore had different predicted target heights. The shorter brother was treated with GnRH analogue plus hGH for 3 years, whereas the other brother received only hGH. Despite different predicted heights at the onset of puberty, they attained similar final heights. We conclude that in patients with IGHD, GnRH analogue treatment should be considered to delay puberty and obtain a maximal growth response if hGH treatment is started in late childhood and the predicted height at puberty onset is below the genetic target.

Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

Isolated GH deficiency (IGHD) is familial in 5-30% of cases. The majority of patients have the type IB form, characterized by autosomal recessive transmission, low but measurable serum concentrations of GH, and responsiveness to exogenous GH therapy. Unique mutations in the gene encoding the GHRH receptor (GHRHR) have previously been described in 2 kindreds with IGHD IB. However, the prevalence of GHRHR mutations in patients with IGHD IB is unknown. We analyzed 30 families with IGHD IB in which more than 1 member was affected. Linkage analysis was performed in 28 of the families, and in 3 families sibling pair analysis indicated linkage to the GHRHR gene locus. These 3 families as well as 2 families in which linkage analysis was not performed were screened for mutations in the 13 coding exons, the intron-exon boundaries, and 327 bases of the promoter of the GHRHR gene. We identified novel GHRHR missense mutations in 2 of the 3 kindreds with informative linkage and in 1 family in which linkage had not been performed. In 1 family affected members were homozygous for a mutation in codon 144 that replaces leucine with histidine (L144H). Affected subjects in a second family were compound heterozygotes, carrying both the L144H mutation and a second mutation in codon 242 that replaces phenylalanine with cysteine. Affected subjects in a third family were homozygous for a mutation that replaces alanine at codon 222 with glutamic acid. All 3 mutations segregated with the IGHD phenotype. All 3 mutant receptors were expressed in CHO cells, and each failed to show a cAMP response after treatment of the cells with GHRH. These results demonstrate that missense mutations in the GHRHR gene are a cause of IGHD IB, and that defects in the GHRHR gene may be a more common cause of GH deficiency than previously suspected.

[Vertical transmission of hepatitis C virus]. / Transmisión vertical del virus de la hepatitis C.

OBJECTIVES: Few studies have been published on vertical transmission of hepatitis C virus (HCV), although it is the most common cause of hepatitis C in children. We aimed to determine the rate of vertical transmission of HCV in at risk neonates and to assess the effect of possible risk factors. METHODS: A prospective follow-up study was conducted in 35 children of seropositive mothers during an 18-month period (July 1997-January 1999). Testing for anti-HCV antibodies was performed with third generation enzyme linked immunoadsorbent assay. HCV-RNA was qualitatively analyzed with reverse transcriptase polymerase chain reaction (RT-PCR) and hepatic enzyme studies. RESULTS: All the 35 children studied were positive for HCV antibodies at birth. The children became HCV negative at a mean age of 6 months. HCV infection was detected in two children (5.7%). The mother of one of these children had both HCV and human immunodeficiency virus (HIV) infection. Among the 35 seropositive mothers, a risk factor for percutaneous transmission of HCV (parenteral injection, drug addiction, or previous transfusions) was detected in 19(54%) and HIV coinfection was found in 9(26%). CONCLUSIONS: The present study is consistent with other studies that found a vertical HCV transmission rate of approximately 5%, with a greater risk if the mothers had HCV/HIV coinfection or parenteral risk factors. Studies with greater numbers of subjects are required to determine the prevalence of HCV in expectant mothers and the precise rate of vertical transmission. Infected children should be followed up to evaluate the repercussions of HCV infection.

Transmisión vertical del virus de la hepatitis C / Vertical transmission of hepatitis C virus infection

Los estudios sobre la transmisión vertical del virus de la hepatitis C (VHC) son escasos a pesar de ser la causa más frecuente de hepatitis C en niños. Se pretende fundamentalmente conocer la tasa de transmisión vertical del VHC en recién nacidos de riesgo y el efecto de los posibles factores de riesgo. MÉTODOS: Durante un período de 18 meses (de julio de 1997 a enero de 1999) se efectuó seguimiento prospectivo a 35 niños hijos de madres seropositivas mediante controles de anticuerpos anti VHC con ELISA de tercera generación, ARNVHC por RTPCR de forma cualitativa y enzimograma hepático. RESULTADOS: Del total de 35 niños objeto del estudio, el 100% tuvieron anticuerpos (Ac) VHC positivos al nacimiento. La edad media de negativización fue de 6 meses. En 2 niños (5,7%) se detectó infección por el virus C. Uno de ellos era hijo de una madre con coinfección VHC y VIH. De las 35 gestantes seropositivas se identificó un factor de riesgo de transmisión percutánea para el VHC (adicción a drogas por vía parenteral o transfusiones previas) en 19 (54 %) y 9 (26 %) tenían coinfección por VIH. CONCLUSIÓN: El presente estudio concuerda con otros que determinan una tasa de transmisión vertical del VHC alrededor de un 5%, con un mayor riesgo si las madres tienen coinfección VHC/VIH o factores de riesgo parenterales. Se requieren estudios extensos para determinar la prevalencia de la infección por virus de la hepatitis C en gestantes así como la tasa exacta de transmisión vertical. Es necesario el seguimiento de los niños infectados para valorar las repercusiones de la infección por VHC (AU)

Exploración funcional renal básica en pediatría / Basic kidney function examination in pediatrics

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