9 research outputs found
Home parenteral nutrition (HPN) registry in spain for the years 2007, 2008 and 2009 (Nadya-SENPE group)
Objetivo: Comunicar los datos del registro de Nutrición
Parenteral Domiciliaria (NPD) del grupo de trabajo
NADYA-SENPE de los años 2007, 2008 y 2009.
Material y métodos: Recopilación de los datos del registro
“on-line” introducidos por las Unidades responsables
del seguimiento de la NPD desde el 1 de enero de 2007 al 31
de diciembre de 2009 dividido por años naturales.
Resultados: Año 2007: Se registraron 133 pacientes
con NPD (61 hombres y 72 mujeres), de 21 hospitales. La
edad media de los 119 pacientes mayores de 13 años fue de
53,7 ± 14,9 años, y de 3,6 ± 3,6 años la de los 14 pacientes
que no los superaban. La patología más frecuente fue la
neoplasia (24%) seguida de las alteraciones de la motilidad
intestinal y la enteritis posradiación (ambas 14%).
En el 43% de los casos el motivo de indicación fue el síndrome
de intestino corto, seguido de malabsorción (27%)
y obstrucción intestinal (23%). Los catéteres más utilizados
fueron los tunelizados (69%) y los reservorios subcutáneos
(27%). Las complicaciones mas frecuentes fueron
las sépticas relacionadas con el catéter con una tasa de
0,92 infecciones por cada mil días de NPD. La duración de
la NPD fue superior a los dos años en el 50% de los casos.
Al acabar el año seguía en activo el 71,4% de los pacientes;
la muerte fue la principal causa de la finalización de
la NPD (57,5%). El 26% de los pacientes se consideraron
candidatos al trasplante intestinal.
Año 2008: Se registraron 143 pacientes con NPD (62
hombres y 81mujeres), de 24 hospitales. La edad media
de los 133 pacientes mayores de 13 años fue de 54,7 ± 13,9
años, y de 3,7 ± 0,6 años la de los 10 pacientes que no los
superaban. La patología más frecuente fue la neoplasia
(20%) seguida de la enteritis rádica (14%) y las alteraciones
de la motilidad intestinal (13%). En el 44% de los
casos el motivo de indicación fue el síndrome de intestino
corto, seguido de malabsorción (28%) y obstrucción
Nutriintestinal
(20%). Los catéteres más utilizados fueron los
tunelizados (60%) y los reservorios subcutáneos (29%).
Las complicaciones mas frecuentes fueron las sépticas
relacionadas con el catéter con una tasa de 0,50 infecciones
por cada mil días de NPD. La duración de la NPD fue
superior a los dos años en el 67% de los casos. Al acabar el
año seguía en activo el 71,6% de los pacientes; la muerte
fue la principal causa de la finalización de la NPD
(52,4%). El 29% de los pacientes se consideraron candidatos
al trasplante intestinal.
Año 2009: Se registraron 158 pacientes con NPD (62
hombres y 96 mujeres), de 24 hospitales. La edad media
de los 149 pacientes mayores de 13 años fue de 55,2 ± 13,0
años. La patología más frecuente fue la neoplasia (25%)
seguida de la enteritis rádica (12%) y las alteraciones de
la motilidad intestinal (11%). En el 42% de los casos el
motivo de indicación fue el síndrome de intestino corto,
seguido de malabsorción y obstrucción intestinal (ambas
23%). Los catéteres más utilizados fueron los tunelizados
(60%) y los reservorios subcutáneos (36%). Las complicaciones
mas frecuentes fueron las sépticas relacionadas
con el catéter con una tasa de 0,67 infecciones por cada
mil días de NPD. La duración de la NPD fue superior a los
dos años en el 58% de los casos. Al acabar el año seguía en
activo el 79,2% de los pacientes; el paso a alimentación
oral fue la principal causa de la finalización de la NPD
(48%). El 23% de los pacientes se consideraron candidatos
a trasplante intestinal.
Conclusiones: Se observa un aumento progresivo de
los pacientes registrados respecto a años anteriores con
una prevalencia muy variable según comunidades autónomas.
La principal patología sigue siendo la neoplasia,
que ocupa el primer lugar desde 2003. Se aprecia una disminución
de las complicaciones sépticas relacionadas con
el catéter en los dos últimos años, siendo la tasa de 2008 la
más baja desde la creación del registroObjective: To report the data of the Home Parenteral
Nutrition (HPN) registry of the NADYA-SENPE working
group for the years 2007, 2008 and 2009.
Methodology: We compiled the data from the on-line
registry introduced by the responsible Units for the monitoring
of HPN from January 1st 2007 to December 31st
2009. Included fields were: age, sex, diagnosis and reason
for HPN, access path, complications, beginning and end
dates, complementary oral or enteral nutrition, activity
level, autonomy degree, product and fungible material
supply, withdrawal reason and intestinal transplant indication.
Results: 2007: 133 patients with HPN were registered
(61 males and 72 females), belonging to 21 hospitals.
Average age for the 119 patients older than 13 years old
was 53.7 ± 14.9 years, and 3.6 ± 3.6 y. for the 14 patients
under 14 years old. Most frequent pathology was neoplasm
(24%), followed by intestinal motility disorders
and actinic enteritis (14% both). The reason for HPN provision
was short bowel syndrome (43%), malabsorption
(27%), and intestinal obstruction (23%). Tunnelled
catheters were mostly used (69%), followed by implanted
port-catheters (27%). Catheter related infections were
the most frequent complications, with a rate of 0.92
episodes/103 HPN days. HPN was provided for more than
two years in 50% of the cases. By the end of 2007, 71.4%
of the patients remained active; exitus was the most frequent
reason to end HPN (57.5%). 26% of the patients
were eligible for intestinal transplant.
2008: 143 patients with HPN were registered (62 males
and 81 females), belonging to 24 hospitals. Average age
for the 133 patients older than 13 years old was 54.7 ± 13.9
years, and 3.7 ± 0.6 y. for the 10 patients under 14 years
old. Most frequent pathology was neoplasm (20%), followed
by actinic enteritis (14%) and intestinal motility
disorders (13% ). The reason for HPN provision was
short bowel syndrome (44%), malabsorption (28%), and
intestinal obstruction (20%). Tunnelled catheters were
mostly used (60%), followed by implanted port-catheters
(29%). Catheter related infections were the most frequent
complications, with a rate of 0.50 episodes/103 HPN
days. HPN was provided for more than two years in 67%
of the cases. By the end of 2008, 71.6% of the patients
remained active; exitus was the most frequent reason to
end HPN (52.4%). 29% of the patients were eligible for
intestinal transplant.
2009: 158 patients with HPN were registered (62 males
and 96 females), belonging to 24 hospitals. Average age
for the 149 patients older than 13 years old was 55.2 ± 13.0
years. Most frequent pathology was neoplasm (25%), followed
by actinic enteritis (12%) and intestinal motility
disorders (11%). The reason for HPN provision was short
bowel syndrome (42%), malabsorption, and intestinal
obstruction (23% both). Tunnelled catheters were mostly
used (60%), followed by implanted port-catheters (36%).
Catheter related infections were the most frequent complications,
with a rate of 0.67 episodes/103 HPN days.
HPN was provided for more than two years in 58% of the
cases. By the end of 2009, 79.2% of the patients remained
active; full oral nutrition was the most frequent reason to
end HPN (48%). 23% of the patients were eligible for
intestinal transplant.
Conclusions: We observe an increase in registered
patients with respect to previous years, with a very different
prevalence among regions. Neoplasia remains as the
main pathology since 2003. We observe a decrease in
catheter-related infections in the last two years, being the
2008 rate the smallest since the register’s beginning
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on the long-term effects of the proposed medical management in individuals with UCDs. We studied the impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD). Intrauterine growth of all investigated UCDs and postnatal linear growth of asymptomatic individuals remained unaffected. Symptomatic individuals were at risk of progressive growth retardation independent from the underlying disease and the degree of natural protein restriction. Growth impairment was determined by disease severity and associated with reduced or borderline plasma branched-chain amino acid (BCAA) concentrations. Liver transplantation appeared to have a beneficial effect on growth. Weight development remained unaffected both in asymptomatic and symptomatic individuals. Progressive growth impairment depends on disease severity and plasma BCAA concentrations, but cannot be predicted by the amount of natural protein intake alone. Future clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth in UCDs
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Documento de consenso SENPE/SEGHNP/ANECIPN/SECP sobre vías de acceso en nutrición enteral pediátrica
Standardization of clinical procedures has become a
desirable objective in contemporary medical practice. To
this effect, the Spanish Society of Parenteral and Enteral
Nutrition (SENPE) has endeavoured to create clinical
practice guidelines and/or documents of consensus as well
as quality standards in artificial nutrition. As a result, the
SENPE’s Standardization Team has put together the
“Document of Consensus in Enteral Access for Paediatric
Nutritional Support” supported by the Spanish Society of
Pediatric Gastroenterology, Hepatology and Nutrition
(SEGHNP), the National Association of Pediatric and
Neonatal Intensive Care Nursery (ANECIPN), and the
Spanish Society of Pediatric Surgery (SECP). The present
publication is a reduced version of our work; the
complete document will be published as a monographic
issue. It analyzes enteral access options in the pediatric
patient, reviews the levels of evidence and provides the
team-members’ experience. Similarly, it details general
and specific indications for pediatric enteral support,
current techniques, care guidelines, methods of administration
and complications of each enteral access. The data
published by the American Society for Parenteral and
Enteral Nutrition (ASPEN) and several European Societies
has also been incorporatedLa estandarización de procedimientos clínicos se ha
convertido en un objetivo deseable en la práctica médica
actual. La Sociedad Española de Nutrición Parenteral y
Enteral (SENPE) está haciendo un considerable esfuerzo
para desarrollar guías clínicas y/o documentos de consenso
así como marcadores de calidad en nutrición artificial.
Como fruto de ese esfuerzo el Grupo de Estandarización
de SENPE ha elaborado un Documento de Consenso
sobre Vías de Acceso en Nutrición Enteral Pediátrica,
avalado también por la Sociedad Española de Gastroenterología,
Hepatología y Nutrición Pediátrica (SEGHNP),
la Asociación Nacional de Enfermería de Cuidados Inten-
sivos Pediátricos y Neonatales (ANECIPN) y la Sociedad
Española de Cirugía Pediátrica (SECP). Esta publicación
es una síntesis del documento consensuado que ha
incluido el estudio en profundidad del acceso enteral
pediátrico, la revisión de los niveles de evidencia y la experiencia
de los componentes del Grupo. Se han considerado
también los datos publicados por la American
Society for Parenteral and Enteral Nutrition (ASPEN) y
por diversas sociedades europeas. El texto completo se
publicará como un número monográfico. En este trabajo
se detallan las indicaciones generales y específicas de la
nutrición enteral pediátrica, las técnicas, los cuidados
generales y específicos, el modo de administración y las
complicaciones de las diversas vías de acces
The phenotypic spectrum of organic acidurias and urea cycle disorders Part 2: the evolving clinical phenotype (vol 38, pg 1059, 2015)
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population. CONCLUSIONS: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. Conclusion: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design