| Answer to PhotoQuiz 36 |
| Nephrosialidosis (OMIM 256150) |
| Neuraminidase deficiency (OMIM: #256550; which includes sialidosis type I and type II) is an
autosomal recessive disorder caused by homozygous or compound heterozygous mutations in
the NEU1 gene, which results in progressive lysosomal storage of sialylated glycopeptides and
oligosaccharides. Clinical features include short stature, developmental delay, coarse facies, hearing
loss, inguinal hernia in males, hepatosplenomegaly, cherry red spot in macula, proteinuria,
increased urinary sialyl oligosaccharides and glycopeptides, dysostosis multiplex and
periosteal cloaking of long bones. An early form of glomerular nephropathy with clinical features
of sialidosis type II which can progress to renal failure can occur in neuraminidase deficiency with
clinical features of sialidosis type II and has been named as nephrosialidosis (MIM: 256150). |
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| Correct responses were given by: |
| 1. Jagadish Bhat, Goa |
| 2. Srikanth, New Delhi |
| 3. Prashant Kumar Verma, Jaipur |
| 4. G Aruna, Bengaluru |
| 5. Sameer Bhatia, Dehradun |
| 6. Niby J Elackatt, Bengaluru |
| 7. Jai Prakash Soni, Jodhpur |
| 8. Vivekananda Bhat, Bengaluru |
| 9. Mansi Vishal, Ahmedabad |
| 10. Parag Mohan Tamhankar, Mumbai |