A rare and extraordinary case of kidney disease has emerged in Kurnool, where a 4-year-old boy was diagnosed with Lipoprotein Glomerulopathy (LPG), one of the rarest kidney disorders worldwide. The medical team at KIMS Hospital, Kurnool, led by Consultant Nephrologist Dr. K. Anantha Rao, successfully treated the boy, making this the first reported case in South India and the youngest patient globally to be diagnosed with LPG.

Providing details about this landmark case, Dr. Anantha Rao said: “The 4-year-old boy, a resident of Kurnool, was brought to the hospital with swelling in his legs and face, which had persisted for two months. Upon conducting a few tests, we detected significant protein leakage in his urine, initially suggesting nephrotic syndrome. The patient was started on steroid treatment but showed no improvement. The case was then referred to me, and upon further investigation, we diagnosed the boy with steroid-resistant nephrotic syndrome. We also found abnormally high cholesterol levels, with serum cholesterol at 250 mg/dL and triglycerides at 950 mg/dL—an extremely rare presentation. We conducted a kidney biopsy and electron microscopy, which revealed the presence of Lipoprotein Glomerulopathy, the rarest kidney disorder in the world.”

This is the first such case ever documented in South India and the first instance globally of LPG occurring in such a young patient. Further genetic testing revealed a mutation in the APOE gene, a finding unique in India. “Lipoprotein Glomerulopathy has only 200 documented cases worldwide, primarily in China and Japan, and is usually diagnosed in adults. Identifying it in a 4-year-old is unprecedented,” explained Dr. Rao.

Once the diagnosis was made, steroid treatment was stopped, and the child was placed on medications specifically aimed at controlling the lipid abnormality. Over time, the boy’s cholesterol and triglyceride levels began to normalize, and protein leakage in his urine ceased. “Timely diagnosis and appropriate treatment were critical in preventing permanent kidney failure in this case,” emphasized Dr. Rao.

Lipoprotein Glomerulopathy is an exceptionally rare disorder, where cholesterol and triglycerides accumulate in the kidneys, causing protein leakage and potential kidney failure. The discovery of this disease in a child highlights the importance of early diagnosis and intervention to prevent severe complications.

KIMS Hospital, Kurnool’s nephrology department, under Dr. Rao’s leadership, is renowned for treating rare kidney diseases and providing kidney transplant services. Dr. Rao has conducted over 800 kidney biopsies to date.