We report a 10 year old boy presenting with bilateral hydronephrosis and peculiar facial expression suggestive of Ochoa Syndrome or Urofacial syndrome. He had chronic renal failure which was managed conservatively.
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http://dx.doi.org/10.1007/s13312-010-0067-5 | DOI Listing |
Cell Death Dis
December 2024
Technion Integrated Cancer Center, Rappaport Faculty of Medicine, Technion, Haifa, Israel.
Little attention was given to heparanase 2 (Hpa2) over the last two decades, possibly because it lacks a heparan sulfate (HS)-degrading activity typical of heparanase. Emerging results suggest, nonetheless, that Hpa2 plays a role in human pathologies, including cancer progression where it functions as a tumor suppressor. Here, we examined the role of Hpa2 in cervical carcinoma.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, United States.
J Appl Genet
August 2024
Grupo Infettare, Facultad de Medicina, Universidad Cooperativa de Colombia, Medellín, Colombia.
Urofacial syndrome or Ochoa syndrome (UFS or UFOS) is a rare disease characterized by inverted facial expression and bladder dysfunction that was described for the first time in Colombia. It is an autosomal recessive pathology with mutations in the HPSE2 and LRIG2 genes. However, 16% of patients do not have any mutations associated with the syndrome.
View Article and Find Full Text PDFElife
July 2024
Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.
FASEB J
May 2024
Technion Integrated Cancer Center, Rappaport Faculty of Medicine, Technion, Haifa, Israel.
HPSE2, the gene-encoding heparanase 2 (Hpa2), is mutated in urofacial syndrome (UFS), a rare autosomal recessive congenital disease attributed to peripheral neuropathy. Hpa2 lacks intrinsic heparan sulfate (HS)-degrading activity, the hallmark of heparanase (Hpa1), yet it exhibits a high affinity toward HS, thereby inhibiting Hpa1 enzymatic activity. Hpa2 regulates selected genes that promote normal differentiation, tissue homeostasis, and endoplasmic reticulum (ER) stress, resulting in antitumor, antiangiogenic, and anti-inflammatory effects.
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