Misconceptions like children cannot have kidney diseases or a child will have kidney ailments only if the parents have it are barriers that delay treatment, doctors said at a meet on rare kidney diseases in the city on Saturday.
Greater awareness will erase these myths. Patients will arrive faster in hospitals and clinics, and an early onset of treatment can bring better results, said doctors.
The manifestations of a rare kidney disease can be as early as the in-utero stage — when the child is in the womb. The symptoms may also start showing up when one has become an adult.
“An anomaly scan (performed between 18 and 22 weeks of pregnancy) can detect structural abnormalities in a kidney. The scan will not reveal if it is a genetic disorder and a rare disease, but the structural abnormality is the red flag that there is a need to probe further,” said Rajiv Sinha, a senior paediatric nephrologist at the Institute of Child Health (ICH).
“Gynaecologists have an important role here and they should advise the parents to immediately see a nephrologist or a general physician,” said Sinha, the head of nephrology at ICH.
Further investigations can reveal the severity and the nature of the disease. “If investigations reveal that the condition will not be salvageable, the family can go for an abortion,” said a doctor.
With the advancement of medication, the newborn can be managed better and can have a much better quality of life, doctors said.
Suchandra Mukherjee, a professor of neonatology at SSKM Hospital, said many hospitals still do not conduct anomaly scans on pregnant mothers. This results in missing early signs of a rare kidney disease in the baby. “There should be more stress on ensuring that anomaly scans are done,” said Mukherjee.
In a newborn, clinical analysis by doctors can also raise suspicions about whether a child has a rare kidney disease. Further investigations can confirm it, said doctors.
Saturday’s conference was organised by the Institute of Child Health and the Indian Society of Nephrology.
Doctors said most patients or their families think rare diseases are all neurological diseases, whereas many kidney ailments, like atypical hemolytic uremic syndrome (a genetic condition triggering the formation of small blood clots that can block blood flow to the kidneys and other organs) and polycystic kidney
disease (kidney function is impaired by the formation of cysts), are classified as rare diseases.
Patients registered with centres of excellence under the National Rare Diseases Policy of India can get up to ₹50 lakh for treatment of the diseases. In Calcutta, SSKM Hospital is the centre for registering patients.
At the conference, doctors also harped on the necessity for greater collaboration between paediatric nephrologists and adult nephrologists.
“Collaboration between paediatric and adult nephrologists can bring better outcomes for a patient transitioning from the paediatric age to adulthood. The adult nephrologist can get important information about the history of the patient, the nature and tempo of the disease, which can help in much better decision making,” said Pratik Das, a senior consultant (nephrology) at RN Tagore International Institute of Cardiac Sciences.