Brief Answer:
Can i have details of the case please

Detailed Answer:
Hi XXXXXXX ... Can I have the details of the case please. Sometimes there are certain syndromes in which there will be raised indirect bilirubin levels.

I request you to send me over the case details. I will be glad to help you.

But if you need only a hepatologist to answer your query, I would let this query go to another specialist.

Regards - Dr. Sumanth

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Brief Answer:
I have gone through the 2009 reports - I need latest reports

Detailed Answer:
Hi XXXXXXX ..I have gone through the reports of your kid from 2009. I suggest you upload if you have any latest reports of the kid along with a photograph of face and eyes open.

Otherwise I suggest you take the following test and image and upload here -
1. Photograph of face with eyes open.
2. Liver function tests. including serum bilirubin (total/ direct and indirect)
3. Serum Albumin.
4. Prothrombin time.
6. Serum Ceruloplasmin

If you can get back to me with the information I have requested, I would be glad to help you.

Regards - Dr. Sumanth

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Brief Answer:
Gilberts syndrome - Please do not worry.

Detailed Answer:
Hi XXXXXXX ..I have gone through your latest uploads and I want to reassure you that nothing wrong in going on with your kid. This fitting into a condition called - CONGENITAL INDIRECT HYPERBILIRUBINEMIA SYNDROMES.

In this condition, there will be yellowish discoloration of the eyes and mildly elevated bilirubin levels through out the life but nothing serious is going to happen. There are 3 types in this -


Crigler-Najjar (CN) syndrome type 1 - Jaundice develops in the first few days of life and rapidly progresses by the second week; This will lead to early death within few months. The usual life expectancy here is around 15 months. THIS IS NOT THE CASE WITH YOUR SON. DO NOT WORRY.

Crigler-Najjar syndrome type 2 - Usually, no clinical symptoms are reported with this disease entity except of the yellowish discoloration of the eyes.

XXXXXXX syndrome - May manifest only as jaundice on clinical examination; at least 30% of patients with XXXXXXX syndrome are asymptomatic, although nonspecific symptoms, such as abdominal pain and fatigue are common. XXXXXXX syndrome is a common and benign condition.

I think your kid is having XXXXXXX syndrome. The only caution you need to take and tell the doctors who treat your kid for any condition is that - patients with XXXXXXX syndrome may be at higher risk of developing toxicity from certain medications (eg, irinotecan) and protease inhibitors (eg, atazanavir, indinavir) that can inhibit UGT metabolism.

I am thinking about XXXXXXX syndrome in your kid because - XXXXXXX syndrome can generally be made on the basis of the following findings:

•Unconjugated hyperbilirubinemia noted on several occasions
•Normal results from the CBC, reticulocyte count, and blood smear
•Normal liver function test (LFT) results
•An absence of other disease processes

NO additional testing needs to be done in your kid's case.

Coming to treatment part - only reassurance. I can only tell you that this is not an entity to be treated. Please do not worry. Has an excellent prognosis, and is associated with normal life expectancy. In light of the benign and inconsequential nature of XXXXXXX syndrome, the use of medications to treat patients with this condition is unjustified in clinical practice.

If you need any future medical consultation and suggestions, I will be glad to help. You can approach me at the following link. Please find the link below.

www.healthcaremagic.com/doctors/dr-sumanth-amperayani/67696

If you are happy with my interaction, kindly close the discussion and rate it.

Regards - Dr. Sumanth

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Brief Answer:
Suggestions on Gilberts syndrome

Detailed Answer:
Hi XXXXXXX ..coming to your queries directly -
1. XXXXXXX syndrome can be diagnosed by a thorough history and physical examination and confirmed by standard blood tests. Repeated investigations and invasive procedures are not usually justified for establishing a diagnosis. Certain specialized tests are there, but not useful as the diagnosis is usually straight forward and harmless.
The test include - Fasting test/ Nicotinic acid test/ Phenobarbital test/ Radiolabeled chromium test/ Thin-layer chromatography/ Drug clearance test/ Polymerase chain reaction assay/ Percutaneous liver biopsy.

2. XXXXXXX syndrome can have different inheritance patterns. When the condition is caused by the UGT1A1*28 change in the promoter region of the UGT1A1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutation. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. So there is a chance for it to come in next baby. But as it is harmless - you need not worry.

3. Regarding the cure of Gilbert's syndrome - as I have already mentioned in out previous interaction - In light of the benign and inconsequential nature of XXXXXXX syndrome, the use of medications to treat patients with this condition is unjustified in clinical practice.

If you need any future medical consultation and suggestions, I will be glad to help. You can approach me at the following link. Please find the link below.

www.healthcaremagic.com/doctors/dr-sumanth-amperayani/67696

If you are happy with my interaction, kindly close the discussion and rate it.

Regards - Dr. Sumanth

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