Primary Hereditary oxaluria Type 1

Author: Ankur Ahuja, DM, 12/12/2018
Category: Red Cell: Other Disorders > Bone/metabolic disease > Oxalosis
Published Date: 12/13/2018

A 4 yrs old male 04 years old male, born of consanguineous marriage, presented with pancytopenia and pain abdomen right liac fossa. There was no complaint of fever. Physical examination revealed hepatosplenomegaly. There was the family history of sibling death with renal failure at the age of  04 months. On detailed history there was similar death of a cousin sister on the maternal side because of renal failure but the exact cause couldn’t be ascertained. Our patient’s investigations revealed Haemoglobin of 7.2 g/dl, WBC  of 2400/cumm and platelets of 80,000/cumm while peripheral blood smear revealed normocytic normochromic anaemia with absolute neutropenia (ANC of 920/cumm. There were no NBCs/left shift/atypical cells seen. There was no dysplasia in myeloid series. Her bone marrow examination was performed which revealed fine, elongated, needle shaped, refractile crystals in intertrabecular spaces. These crystals showed   birefringence under polarised light A diagnosis of hereditary oxalosis with differential diagnosis of cystinosis was offered. Further urine examination was requested which showed octahedral crystals; needle shaped showing birefringence to polarised light and were able to dissolved in dilute hydrochloric acid. Further intravenous urography was done which revealed poor concentration of the dye in the kidneys with evidence of nephrolithiasis. On taking into current picture history of oxalate containing food Patient died after 2 weeks later.  Post mortem revealed similar crystals on the meninges of brain, nails ad bilateral kidneys. Further Sanger sequencing revealed homozygous frameshift deletion (pV149fs) of Exon 4 in AGXT gene consistent with hereditary oxalosis. Sanger sequencing of mother and father showed heterogeneous deletion frame shift at exon 4 of AGXT gene, thus confirming our histopathology diagnosis of hereditary oxalosis. Parents were being counselled and in the subsequent pregnancy though amniocnetesis the child was found to be heterozygous for AGXT mutation and presently the couple delivered a healthy child recently after negative confirmation for homozygosity of the particular mutation. Neonate who is just 10 days old is under constant supervision and follow up.