AN INFANT WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE AND CHRONIC KIDNEY DISEASE STAGE 5G WITH SUSPECTED LESCH-NYHAN SYNDROME IN : A COMPLEX DIAGNOSTIC CHALLENGE.

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Abstract Title *

AN INFANT WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE AND CHRONIC KIDNEY DISEASE STAGE 5G WITH SUSPECTED LESCH-NYHAN SYNDROME IN : A COMPLEX DIAGNOSTIC CHALLENGE.

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Co-author 1

Nauryzgul Zhangabay nauryzgul.kz@mail.ru University medical center Department of nephrology Astana Kazakhstan * University medical center Department of nephrology Astana Kazakhstan

Co-author 2

Saltanat Rakhimzhanova saltanat.rahimzhanova@umc.org.kz University medical center Department of nephrology Astana Kazakhstan -

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Introduction

Methods

The medical history of a 7 month old male patient with end stage chronic kidney disease secondary to the genetic disorder Lesch Nyhan syndrome

Results

Analysis of Test Results

Kidney Imaging: Polycystic changes in both kidneys (ultrasound, MRI, CT).

Biochemistry: Severe azotemia (creatinine up to 266 µmol/L, urea up to 35.4 mmol/L), persistent metabolic acidosis, hyperkalemia, hyperphosphatemia.

Hematology: Recurrent moderate-severe anemia (Hgb 71–136 g/L), thrombocytopenia and thrombocytosis episodes.

Microbiology: MRSA infection of foot and hand ulcers.

Gastrointestinal: Duodenal ulcer confirmed by EGD after GI bleeding (melena, coffee-ground vomit).

Growth parameters: Severe failure to thrive (weight 3200g at 7 months).

Conclusion

This case underscores the importance of considering rare metabolic syndromes such as LNS in infants with unexplained hyperuricemia, developmental delay, and subcutaneous lesions — even in the presence of other complex comorbidities like ARPKD.

Kewords