Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience

Krishnasamy, Sudarsan; Deepthi, Bobbity; Kamath, Nivedita; Iyengar, Arpana; Thomas, Christy Cathreen; Uthup, Susan; Saha, Anshuman; Mathew, Georgie; Agarwal, Indira; Tiewsoh, Karalanglin; Bhat, Nowneet Kumar; Mandal, Kausik; Krishnamurthy, Sriram

doi:10.1007/s00467-023-06200-9

Cited by 5 publications

(1 citation statement)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PH2 is a very rare form of PH due to the deficit of GRHPR, a homodimeric enzyme that catalyzes the NADPH-dependent reduction of both glyoxylate and hydroxypyruvate generating glycolate and D-glycerate, respectively [ 61 ]. PH2 can display a morbidity higher than expected [ 12 , 62 ], which warrants a more in-depth characterization of its pathogenetic mechanisms. In this regard, it has been demonstrated that GRHPR shows a double cytosolic/mitochondrial localization, thus expanding its role in mitochondrial glyoxylate detoxification as claimed from stable isotope infusion studies [ 13 , 63 ].…”

Section: Molecular Pathogenesis Of Primary Hyperoxaluria Type 2 (Ph2)mentioning

confidence: 99%

A molecular journey on the pathogenesis of primary hyperoxaluria

Cellini

2024

Current Opinion in Nephrology &Amp; Hypertension

View full text Add to dashboard Cite

Purpose of review Primary hyperoxalurias (PHs) are rare disorders caused by the deficit of liver enzymes involved in glyoxylate metabolism. Their main hallmark is the increased excretion of oxalate leading to the deposition of calcium oxalate stones in the urinary tract. This review describes the molecular aspects of PHs and their relevance for the clinical management of patients. Recent findings Recently, the study of PHs pathogenesis has received great attention. The development of novel in vitro and in vivo models has allowed to elucidate how inherited mutations lead to enzyme deficit, as well as to confirm the pathogenicity of newly-identified mutations. In addition, a better knowledge of the metabolic consequences in disorders of liver glyoxylate detoxification has been crucial to identify the key players in liver oxalate production, thus leading to the identification and validation of new drug targets. Summary The research on PHs at basic, translational and clinical level has improved our knowledge on the critical factors that modulate disease severity and the response to the available treatments, leading to the development of new drugs, either in preclinical stage or, very recently, approved for patient treatment.

show abstract