Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine oxidoreductase or dehydrogenase (XDH) deficiency. We report a family with two affected children out of 335 pediatric ...stone patients studied since 1991 in Armenia. The propositus, a 13-month-old boy, presented with abdominal pain and urinary retention followed by stone passage (0.9x0.6 cm). Infrared spectroscopy in Yerevan revealed a pure xanthine stone. Family examination in the parents and brother was normal, but the propositus and his 8-year-old asymptomatic sister had hypouricemia, hypouricosuria, and high urinary excretion of hypoxanthine and xanthine. Ultrasonography in the index patient showed bilateral stones requiring pyelolithotomy. High fluid intake and purine restriction did not prevent further stone passages. The affected asymptomatic sister had a small pelvic stone (4 mm). Mutation analysis revealed a heterozygous novel base pair substitution in exon 25 of the XDH gene (c.2810C>T), resulting in an amino acid substitution (p.Thr910Met). The second mutation could not be detected. Despite this, the heterozygous mutation, the chemical findings, and the positive allopurinol test altogether prove xanthinuria type I, which may present wide clinical intrafamilial variation. Diagnosis is suspected usually from low serum uric acid. No specific therapy is available.
Summary
Donation after circulatory death (DCD) has become an accepted practice in many countries and remains a focus of intense interest in the transplant community. The present study is aimed at ...providing a description of the current situation of DCD in European countries. Specific questionnaires were developed to compile information on DCD practices, activities and post‐transplant outcomes. Thirty‐five countries completed the survey. DCD is practiced in 18 countries: eight have both controlled DCD (cDCD) and uncontrolled DCD (uDCD) programs, 4 only cDCD and 6 only uDCD. All these countries have legally binding and/or nonbinding texts to regulate the practice of DCD. The no‐touch period ranges from 5 to 30 min. There are variations in ante and post mortem interventions used for the practice of cDCD. During 2008–2016, the highest DCD activity was described in the United Kingdom, Spain, Russia, the Netherlands, Belgium and France. Data on post‐transplant outcomes of patients who receive DCD donor kidneys show better results with grafts obtained from cDCD versus uDCD donors. In conclusion, DCD is becoming increasingly accepted and performed in Europe, importantly contributing to the number of organs available and providing acceptable post‐transplantation outcomes.
Mitochondrial DNA depletion syndromes (MDS) are a group of clinically and genetically heterogeneous autosomal recessive disorders characterized by a reduction of mtDNA. We report two siblings of ...Armenian origin with early onset neurodegenerative disease characterized by encephalopathy, severe hypotonia, facial dyskinetic movements, abnormal eye movements, severe failure to thrive, and abnormal renal and hepatic function. Sanger sequencing confirmed two variants in the C10orf2 gene (TWNK) and indicated a diagnosis of MDS. Our recent observation confirms that nephrocalcinosis and proximal tubulopathy can be a part of a clinical picture of MDS associated with TWNK mutations and document peculiar ocular and orobuccolingual dyskinesias. Wrist myoclonia and tongue tremor were new clinical features in our patients. We suggest that the above-mentioned clinical constellation could potentially provide the basis for the diagnosis of MDS.
•Wrist myoclonia and tongue tremor are new clinical features of mitochondrial depletion syndromes.•Proximal tubulopathy and nephrocalcinosis can be observed in TWNK mutations.•Peculiar constellation of clinical symptoms can provide targeted genetic testing for mitochondrial depletion sydromes.
Acute respiratory infections (ARIs) are major causes of morbidity in early childhood. They are mainly caused by viruses, including influenza (INF) and respiratory syncytial viruses (RSV). We aimed to ...investigate the role of RSV and INF in children hospitalized for ARIs and to show the impact of RSV/INF rapid testing on management of patients.
Cross-sectional study using data of inpatient care of children younger than five years hospitalized in Arabkir Medical Center due to ARI from November 1, 2013 to April 1, 2014. Nasopharyngeal swabs were tested for RSV and INF types A and B by direct antigen detection tests.
A total of 915 patients, 583 (63.7%) boys and 332 (36.3%) girls were included in the study with the mean age of 18.8 ± 16.3 months. Among them, 390 (42.6%) were tested positive, 3 (0.3%) subjects tested positive both for RSV and INF: 269 (29.4%) for RSV and 124 (13.6%) for INF (A - 121, B - 3). Out of 915 children, 209 (23%) were pretreated with antibiotics, most often with oral amoxicillin/clavulanic acid (n = 54, 25.8%), sulfamethoxazole/trimethoprim (n = 46, 22%), and amoxicillin (n = 38, 18.2%), followed by intramuscular ceftriaxone (n = 37, 17.7%).
The usage of antigen tests for detection of respiratory viruses allowed to document high rates of RSV and INF in children admitted to the hospital. In settings where polymerase chain reaction method is not readily available, implementation of rapid tests for detection of respiratory viruses is important in the management of pediatric patients including cohorting and more targeted use of antibiotics.
Primary, secondary and tertiary healthcare services in Europe create complex networks covering pediatric subspecialties, sociology, economics and politics. Two surveys of the European Society for ...Paediatric Nephrology (ESPN) in 1998 and 2017 revealed substantial disparities of kidney care among European countries. The purpose of the third ESPN survey is to further identify national differences in the conceptualization and organization of European pediatric kidney health care pathways during and outside normal working hours.
In 2020, a questionnaire was sent to one leading pediatric nephrologist from 48 of 53 European countries as defined by the World Health Organization. In order to exemplify care pathways in pediatric primary care nephrology, urinary tract infection (UTI) was chosen. Steroid sensitive nephrotic syndrome (SSNS) was chosen for pediatric rare disease nephrology and acute kidney injury (AKI) was analyzed for pediatric emergency nephrology.
The care pathways for European children and young people with urinary tract infections were variable and differed during standard working hours and also during night-time and weekends. During daytime, UTI care pathways included six different types of care givers. There was a shift from primary care services outside standard working hours to general outpatient polyclinic and hospital services. Children with SNSS were followed up by pediatric nephrologists in hospitals in 69% of countries. Patients presenting with community acquired AKI were admitted during regular working hours to secondary or tertiary care hospitals. During nights and weekends, an immediate shift to University Children's Hospitals was observed where treatment was started by intensive care pediatricians and pediatric nephrologists.
Gaps and fragmentation of pediatric health services may lead to the risk of delayed or inadequate referral of European children with kidney disease to pediatric nephrologists. The diversity of patient pathways outside of normal working hours was identified as one of the major weaknesses in the service chain.
The spectrum of pathology in native kidney biopsies varies considerably between different countries. Based on similar biopsy policy and joint workup, biopsy data of native kidneys of children in ...Yerevan (Armenia) and Zurich (Switzerland) were compared over a period of two decades (1993–2002 and 2003–2012). A total of 487 renal biopsies in Yerevan (EVN),
n
= 253; median age 11.2 years (range 0.8–18; 56 % males) and in Zurich (ZRH),
n
= 234; median age 8.7 years (range 0.1–18; 61 % males) were analyzed. Biopsies from EVN were locally analyzed by light microscopy (LM) and sent to ZRH for electron microscopy (EM) and immunohistochemistry. Biopsies from ZRH were evaluated by LM, EM, and immunofluorescence. The significant difference concerns the high frequency of amyloidosis in EVN (25.4 % in the first and 19.4 % in the second decade vs. 0 % in ZRH) and of IgA nephropathy in ZRH (30.2 % in the first and 26.1 % in the second decade vs. 8.1 in EVN). Certain forms of glomerulonephritis (membranoproliferative type I and membranous) and primary focal segmental glomerulosclerosis tended to be more frequent in EVN than in ZRH. Amyloid nephropathy due to familial Mediterranean fever is still highly frequent in Armenia with a slight decrease in the second decade. In Switzerland, the most common finding was IgA nephropathy.
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