The most common cause of hospitalization in the Pediatric Hepatology Service is a disease that manifests itself with easily recognizable symptoms. However, it happens to be on account of other causes and thus the optimal moment for the intervention is missed, the greatest risk being the death.
Timely diagnosis of disease is the first chance to cure photo baby: Pexels
Dozens of babies die because of late diagnosis of rare cholestatic diseases, warns the national alliance for rare diseases Romania and the Romanian Association of Rare Cancer. The alarm signal was fired at the first webinar in the Share Experience 2025 series, entitled “Rare cholestatic diseases: diagnostic and therapeutic challenges in these diseases and other rare liver disease ”. During the event, specialists and representatives of patients intervened, who drew attention to the real risks caused by the lack of an early diagnosis and the limited access to essential treatments in Romania.
Neonatal cholestase – the disease to be diagnosed in the first two months of life
Neonatal cholestase is the most common cause of hospitalization in a pediatric hepatology and liver transplant service in children up to 2 years old, the specialists invited within the webinar, Prof. Tudor Lucian Pop-UMF “Iuliu Haţieganu” Cluj-Napoca, respectively. Univ. dr. Alina Grama – UMF “Iuliu Haţieganu” Cluj -Napoca.
Neonatal cholestasis can be explained as an anomaly in the production or release of the ball. It is a serious disease, which represents a medical emergency. It belongs to the category of rare pediatric hepatic diseases, encountered with a frequency from under a case to 2,000 children, although doctors Tudor Pop and Alina Grama said that they treat such cases every day.
The biggest challenge of the disease is the timely diagnosis so that the child has a chance to heal. The diagnosis must be made in the first at most 80-90 days of life, after this age intervening the complications, certain surgery being not being performed, sometimes including the liver transplant being exceeded as a resource.
“Early diagnosis of neonatal cholestasis is essential, because it allows the rapid identification of the cause, such as biliary tract atresia where early surgery can prevent severe or other causes, some genetic diseases, for which the initiation of specific treatment and adequate monitoring can significantly improve the prognosis and quality of the child’s life. explained Assist. Univ. Dr. Alina Grama.
The symptoms, easy to see by the family, are: persistent jaundice, discolored chairs and hyperchroma urine. Not infrequently, however, they are put on account of other conditions, especially when the condition of the child is good, from birth, which is why it becomes necessary to provide updated information and resources including for health professionals. There were cases, Dr. Grama revealed, in which the children were diagnosed with such rare diseases even in the first week of life.
Two serious cases with a different end
The doctor Alina Grama explained that in the case of this disease the children may have a good general condition, even for 2-3-4 months, except for the persistent jaundice, associated with light color chairs. But the complications are major. Cases of cirrhosis have been diagnosed at 4 months of life, the indication being liver transplant.
Dr. Alina Grama presented two cases in the mirror, to exemplify the tragic effects of delay in diagnosis. In the first case it was a 7 -month -old girl, diagnosed with biliary tract atresia, who presented the signs of a biliary impairment from the first days of life. He reached the late pediatric hepatology, eventually occurring the death, two months later.
In another case, a little girl was also diagnosed with a month of life, a surgery (Kasai intervention) was performed that can be performed up to 80-90 days of life, and the child had a favorable evolution, today being of school age.
For a happy ending evolution, however, it is necessary to meet several conditions. The most important is the timely presentation to the doctor. It also matters that the doctor recognizes the disease and guide the family to the pediatric hepatic centers, where rare cholestatic diseases are treated in multidisciplinary teams and where they are called to advanced genetic diagnosis.
„ÎIn the context of rare diseases with liver impairment of the child, the diversity of pathology and the difficulty of the correct diagnosis imposes a better knowledge of these conditions by medical staff and all those who take care of children, the use of advanced genetic tests, as well Patients ”, stressed Prof. Dr. Tudor Pop.
“Essential for patients in Romania with rare cholestatic diseases and not only is the early diagnosis, access to adequate treatment, training of family doctors and other specialists on these diseases, as well as the existence of expert centers for rare liver disease and a path of patients as clearly as possible in the care system ”, said Dorica Dan, the president of Rare.
