For the 1st & 2nd TIME IN INDIA Successful Kidney Transplantation for Children with Rare Kidney Disease

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For the 1st & 2nd TIME IN INDIA Successful Kidney Transplantation for Children with Rare Kidney Disease

19th Aug 2015

Cystinosisis a metabolic genetic disorder where the amino acid cystine accumulates in the cells producing growth retardation, kidney failure and blindness. There are about 2000 children identified with this disease in the world. In India only about 18 children have been identified so far.

Children diagnosed with Cystinosis are usually managed with an imported drug called Cystagon which helps to removecystine from the cells and delays kidney failure.This drug is not available in India and has to be imported from Europe.

Hariharan was also managed initially with Cystagon. But subsequently his kidney failure became very severe and he came back to us on Jun 2014 in a very critical condition. His weight was only 12 kgs at that time and he was very emaciated.

He was started on regular hemodialysis on weekly thrice basis. It is very challenging to dialyse such a small patient. It requires special dialyzer and tubing. With regular dialysis and adequate nutrition his weight improved to 15 kgs.

With the help of donation and Cystinosis foundation (India), Hariharan underwent Kidney Transplantation on 26/05/2015 with father donating his kidney. Technically it was very difficult to place a large sized father’s kidney in the small child. Fortunately the surgical team led by Dr. PaariVijayaraghavan and Dr. ShanmugaSundaram were able to complete the surgery successfully. The paediatricanaesthetic team also played a key role.

The child has recovered well with normal kidney functions and is following as outpatient.

It is important to mention that this is the 2nd TIME IN THE COUNTRY that a child with cystinosis has undergone successful kidney transplantation.

The 1st time was also done at MIOT Hospitals in 2010 and the child (Master. Sanjay, now 12 yrs) has grown well and following up with a normal kidney functions. Over the last 5 yrs Master. Sanjay has gained 17 Kgs and increased by 33 cms in height post his successful kidney transplant.

There might be many children in India like Sanjay and Hariharan as most pediatricians in India are not aware of Cystinosis so to identify the disease early and save them.

ABOUT CYSTINOSIS

Cystinosis is a rare genetic, metabolic disorder caused by accumulation of amino acid cystine within the cells. The cystine crystals accumulate in the lysosome of the cells leading to cell death.Although cystine gets deposited in all the organs, kidneys and the eyes get affected the most. Deposition in the kidney leads to tubular defect with loss of several nutrients in urine. This leads to a growth failure in the children affected by the disease and ultimately kidney failure. The deposition in the cornea leads to blindness. The disease is often diagnosed by identifying the crystals in the cornea.

Cystine, along with other amino acids such as lysine, can normally be found in every cell of the body, in a compartment called the lysosome. In people who don’t have cystinosis, both cystine and lysine are naturally transported out of the lysosome and eventually eliminated from the body.In people with cystinosis, the transport system cystinosin does not work properly, and cystine can accumulate substantially in a matter of hours.While lysine and other amino acids are able to pass through the lysosome membrane, cystine is not. This is why cystinosis is categorized as a lysosomal storage disorder.It is estimated that about 2000 children suffer from this disease all over the world. Several international foundations are in existence to help these children.

Making a Diagnosis

Cystinosis symptoms typically appear within the first year of life. Children born with cystinosis tend to have normal length and weight at birth but their growth falls notably short during the first year of life.A diagnosis of cystinosis is commonly made by examining the eyes for the presence of corneal crystals, and confirmed by measuring the level of cystine in blood cells. Individuals with cystinosis exhibit cystine levels up to 100 times the level found in persons without this disorder.

How Cystinosis Affects the Body

Cystinosis is a lysosomal storage disorder characterized by the toxic accumulation of cystine, potentially affecting every organ in the body. Consequently, signs and symptoms of the disease are extremely broad and diverse. Cystinosis is the leading cause of Fanconi syndrome, a disorder of the kidney tubules in which important nutrients and minerals are released into the urine and must be replaced. Before the availability of treatment, cystinosis would progress to kidney failure, usually between 9 and 10 years of age.

Progression of Cystinosis over Time

In addition to the kidneys and eyes, cystine also builds up in the liver, spleen, lymph nodes, thyroid, intestines, muscle, brain, bone marrow and other parts of the body. Ongoing, regular treatment is needed to continuously lower cystine levels in the cells, which may delay or prevent irreversible organ damage.In order to determine how effectively treatment is working, people with cystinosis should undergo regular testing of their white blood cell cystinelevels.Besides the physical effects, there may be emotional or intellectual changes associated with cystinosis, which may happen alone or in combination, and may affect each person differently

Common Signs and Symptoms of Cystinosis

Most symptoms start to develop between 6 and 12 months of age. The following are some common symptoms of cystinosis.

  • Fanconi syndrome
  • Dehydration and excessive thirst / urination
  • Renal (kidney) impairment
  • Sensitivity to light
  • Stomach / gastrointestinal problems
  • Muscle wasting
  • Failure to thrive / slowed growth
  • Rickets

Genetics &Cystinosis

Recessive Genetic Inheritance:
It means both genes in a pair must be abnormal to cause disease. People with only one defective gene in the pair are called carriers. However, they can pass the abnormal gene to their children.

Consanguineous marriage is an added risk:
For cystinosis to manifest, it requires the mother and father to both possess the affected gene for cystinosis (recessive genetic inheritance), and even then, the chances of their children having the condition is 1 in 4. In recessive genetic disorders, such as cystinosis, a recessive gene lies dormant until parents who both possess the altered gene have children, in which case it may or may not be expressed (25% chance) in the child. A healthy sibling of a child with cystinosis has a 66% chance of being a carrier. Although cystinosis is a hereditary disease (and not contagious), its emergence is unpredictable and is almost always a surprise to the parents of a child receiving a cystinosis diagnosis, since no symptoms of the disease are seen in the parents.