CHENNAI: A rare genetic disorder, cystinosis, where cystine (an amino acid) accumulates in the body's cells, can lead to serious kidney damage and repeated failure of kidney transplants. It affects various organs, with the kidneys being the most commonly impacted. Medical experts, citing the case of a DRDO scientist who underwent a third kidney transplant at Amrita Hospital in Faridabad, suggest that this could be one such case.
"Rare kidney disorders present unique challenges, as they can complicate the immune response to a kidney transplant. Factors like genetic background, immunosuppressive drug adherence, and the quality of the donor organ all influence the likelihood of rejection," says Dr. Dev Acharya, a senior nephrologist associated with a leading US-based genetic research institute and hospital.
He adds that each patient's case must be carefully managed to minimize rejection and improve long-term outcomes. Early detection, careful monitoring, and adherence to treatment protocols are essential for successful transplantation in patients with rare kidney disorders.
There are two main rare genetic disorders prevalent in India—cystinosis and hyperoxaluria—that primarily affect the kidneys, including transplanted kidneys, says Dr. Vinod Scaria, an Indian biologist and medical researcher pioneering Precision Medicine and Clinical Genomics in India.
"Unfortunately, there are no treatments available to cure these disorders at present, though symptom management, such as cysteamine therapy, can slightly extend a patient's life. However, genetic tests are available for diagnosis. While these tests are affordable, the lack of awareness is the main challenge in India, particularly concerning early detection and disease management," adds Dr. Scaria, who is best known for sequencing the first Indian genome.
Dr. Anil Sharma, Senior Consultant Urology, and one of the surgeons who performed the surgery at Amrita Hospital, could not be reached on Wednesday to confirm the exact nature of Barlewar's case.
The key symptoms of these genetic disorders include kidney failure, photophobia (light sensitivity), growth retardation, and Fanconi syndrome.
The limited treatment options for cystinosis include cysteamine therapy to lower cystine levels and kidney transplants in cases of end-stage renal disease.
The patient at the Faridabad hospital had been battling chronic kidney disease for 15 years, which began with a hypertension diagnosis in 2008. This was followed by two failed transplants in 2010 and 2012, the latter of which was further complicated by Covid-19 in 2022.
"Despite the rarity of the case and the surgical challenges, the multispecialty team at Amrita Hospital successfully performed the operation (a third transplant)," said a statement from Amrita Hospital Faridabad on Wednesday.
Dr. Ahmed Kamaal, Senior Consultant Urology at Amrita Hospital, stated in the release; "This case presented extraordinary challenges. The presence of four existing kidneys created significant immunological risks, requiring specialized protocols. We optimized the patient with immunosuppression before the transplant to protect the new kidney from rejection."
With surgical challenges in removing the already transplanted kidneys, the patient is currently carrying five kidneys in his body, further complicating the case.
According to Dr. Scaria, the removal of failed transplanted kidneys is often complex, which leaves the failed organs remained in the body. This not only makes further transplantation challenging but also increases immunological risks.
Dr. Anil Sharma, was quoted in the hospital release; "One of the major challenges in the surgery was adding the fifth kidney due to space limitations, as the patient was thinly built and had an existing incisional hernia."