70% of hospitalized patients have a rare disease- reveals Instituto da Criança
The World Day for Rare Diseases, celebrated on the last day of February, brought to light a very important and little-spoken subject. Along these lines, the Hospital das Clínicas of the Faculty of Medicine of the University of São Paulo (HCFMUSP) is promoting, through the Social Metrô Program, an action called We Are Rare, But We Are Many , a phrase stamped on the Clínicas Metro station (Green Line ) .
A survey carried out by the Institute for Children and Adolescents at HCFMUSP showed that, in just one day of care – February 15, the day of the survey –, 70% of hospitalized children had some rare disease. Of these, 60% were male and 40% female, in addition to 70% of cases being congenital, while 45% were related to rare surgical diseases of the gastrointestinal tract and abdominal wall. There was an almost non-repeating variety.
A disease is classified as rare when it affects up to 65 people in 100,000 inhabitants. “It is estimated that 5% to 6% of the population has some rare disease. This is a very large number that, in Brazil, should reach 12 million, 13 million [people]. Each disease in isolation is rare, but there are many of them, so the group of people with rare diseases is large”, says Magda Carneiro Sampaio, an immunologist and head of Pediatrics at the USP Faculty of Medicine. It is estimated that 75% of rare diseases affect children, while 80% of cases have a genetic origin.
The hospital serves approximately 18,000 children and adolescents with highly complex cases, such as serious chronic diseases. A significant part of them are rare, and in genetics, practically all of them are, explains the doctor. The hospital plans to conduct this profile survey of hospitalized people at least once a month. In this, children from the ward and Intensive Care Unit (ICU) for children and newborns were analyzed; “70% of the children that day had some disease classified as rare”, says Magda.
She says that what draws attention is the number of malformations, among them gastroschisis (closure of the abdominal wall), esophageal atresia (incomplete formation of the esophagus), diaphragmatic hernia (diaphragm malformation), liver and biliary tract problems – which it can lead to cirrhosis and is the leading cause of liver transplantation in the population. “These are the most frequent, most prevalent within this set of congenital malformations. It is important for us to point out that surgical congenital malformations are rare diseases, but the diagnosis of which is sometimes made during prenatal care”, explains Ana Tannuri, head of the Pediatric Surgery and Liver Transplant Service at Instituto da Criança do Hospital das Clinics.
She says that children operated on in the neonatal period have a practically normal quality of life, especially in cases where children are monitored throughout the period. In the case of liver transplantation, the survival rate is above 90%. Therefore, neonatal screening is extremely important.
“There are many groups of rare diseases, but normally the group of surgical diseases, as Ana said, of the gastrointestinal tract, of the abdominal wall, of the diaphragm, is not a group that has great visibility”, says Magda. In general, they are isolated malformations and children have a good prognosis if they are treated and operated on early. “By the way, there are few pediatric surgery groups and services in our country”, she says.
post-surgical care
“The transplanted children will take immunosuppressants for the rest of their lives. They, in fact, need follow-up forever,” says Ana. After the surgery, transplant recipients can be referred to the adult service in the respective areas. In certain cases, the use of continuous medication is necessary, however, with early diagnosis, quality of life is practically normal, explain both doctors.
Children from all over the country, up to 18 years of age, are referred. “We see the child growing, developing. Having the condition to give a quality of life to some children with malformations is a very rewarding thing”, reports Ana.
“Due to the surgical conditions, the ICU conditions, the anesthetic care, with the evolution of all these factors, including the surgical technique, we have practically 100% survival with excellent quality for the children”, he adds. She still remembers the case of esophageal atresia (incomplete formation of the esophagus), which, at the beginning of the century, had a mortality of practically 100%.
Rare Genomes
Currently, the Institute for Children and Adolescents is one of the centers of the Rare Genomes Project , a project in partnership with Proadi, SUS, Hospital Israelita Albert Einstein and the Ministry of Health, under the coordination of physician João Bosco Oliveira. The centers are spread across the entire country and have 1,132 patients with suspected genetic diseases which, by definition, are all rare.
In this project, the trio is collected, that is, the blood of the patient, the father and the mother. “A large genetic database of the Brazilian population is being formed in various parts of the country”, explains Magda. These data could be used to better understand the diseases and mutations, even in healthy people who carry the mutations, the so-called autosomal recessive diseases. When the father and mother have the mutation in the same gene, the child has the disease, says Magda.