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Bowed legs and genetic testing is vus
My baby 2 years old girl has Bowed legs her calcium and vitamin d was low and she was prescribed with calcimax p and vit d3 and after 3 months vitamin d3 and calcium is within normal range and Phosphorus increase from 1.06 - 3.06 and we have been asked to do genetic testing and it came as vus( uncertain significant) for phex gene
Please suggest whether she has xlh ?
Answers (7)
I need to ask few more questions before answering your query.
Early consultations can prevent complications.
Kindly contact me on whatsapp chat
(84960595 six five)
Dr Faisal Zoheb
MBBS , MD PAEDIATRICS , PGPN (BOSTON), FELLOWSHIP IN NEONATOLOGY ( Newborn and vaccination specialist )
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Consult your paediatrician for further tests.
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Dr. Bhatt Vivek Prafulchandra
Pediatrician
7 yrs exp
Rajkot
Consult with Pediatrician physically for further evaluation and treatment
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Dr. Jay Gajjar
Pediatrician
6 yrs exp
Surat
Individual evaluation is advisable
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Dr. Tangade Vishal Bhanudas
Pediatrician
4 yrs exp
Pune
Visit physically to nearby pediatrician.
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Dr. Shebin C E
Pediatrician
10 yrs exp
Kanyakumari
Greetings
2-year-old girl has X-linked hypophosphatemia (XLH) based on leg bowing, resolved calcium/vitamin D deficiencies, rising phosphorus, and a PHEX gene variant of uncertain significance (VUS). A VUS means the genetic change is not yet proven to be harmless or disease-causing, so it cannot confirm a diagnosis on its own. Diagnosing XLH requires a pediatric endocrinologist or geneticist to carefully weigh this genetic data alongside specific biochemical indicators. Essential next steps include a comprehensive evaluation of her fasting blood phosphorus compared to age-specific pediatric ranges, testing urine for phosphate wasting (such as a TmP/GFR calculation), and measuring intact FGF23 hormone levels.
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Dr. Noureen Sadaf
Pediatrician
4 yrs exp
Kota
Although the history matches the disease, but still a complete evaluation with reviewing all the performed tests would be needed to comment on the child's disease status. Kindly connect on practo or WhatsApp at 81122778three three for proper evaluation.
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Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.