Primary hyperoxaluria type 1 in children: Clinical classification, renal replacement therapy, and outcome in a single centre experience

Abstract

Primary hyperoxaluria type 1 (PH1) is a rare disease that is challenged by the overproduced oxalate and commonly presented with radiopaque renal stones or obstructive uropathy. This study aimed to report clinical presentations, renal replacement therapy (RRT), and outcome of PH1 in end stage kidney disease (ESKD) children. This is an observational cohort study. Data of 22 patients with ESKD due to PH1 were analyzed at Pediatric Nephrology Unit, Faculty of Medicine Cairo University. Infantile onset patients (n = 10) had worst renal outcome (80% with ESRD at presentation, p = 0.019) and worse patient outcome (mortality 40%, p = 0.016) than juvenile (n = 9) and late onset (PH1 n = 3) patients. RRT modalities include peritoneal dialysis (PD) in 7 (31.8%), hemodialysis (HD) in 11 (50%), and combined liver kidney transplantation (CLKT) in 4 (18.2%) patients. Infectious complications were encountered in 42.8% of PD patients. Better HD adequacy was observed with frequent HD (n = 6) and/or HD via arteriovenous fistula (AVF) than with infrequent dialysis (n = 5) and/or via central venous line (CVL) (p = 0.0001 and 0.0047, respectively). Morbidity and mortality (infection related) rates of the whole cohort were 63.6% and 31.8%, respectively. Clinical presentation of PH1 varies according to the age of onset (infantile onset being the most aggressive form). Aggressive HD (better through AVF) is needed to achieve acceptable HD adequacy, PD was challenged by infection. Infection found to be the main cause of mortality even after successful CLKT.

Unusual cause of cerebral calcifications in an 8‐year‐old girl

“… 1 The decline of the glomerular filtration rate (GFR) results in systemic oxalate deposition throughout the body, including joints, bones, eyes, and skin. 2 Other manifestations include refractory anemia secondary to bone marrow replacement, hypothyroidism due to damage to the thyroid gland, myocardial deposition with conduction defects or cardiomyopathy, retinopathy, vasculopathy, and cerebrovascular infarction. 3 , 4 , 5 , 6 To the best of our knowledge, cerebral calcifications have never been reported in the literature.…”

“…In countries with high consanguinity rates, such as North African and Middle Eastern populations, the prevalence of the disease is higher than Europe, the United States and Japan, and its real frequency remains largely unknown 1 . The decline of the glomerular filtration rate (GFR) results in systemic oxalate deposition throughout the body, including joints, bones, eyes, and skin 2 . Other manifestations include refractory anemia secondary to bone marrow replacement, hypothyroidism due to damage to the thyroid gland, myocardial deposition with conduction defects or cardiomyopathy, retinopathy, vasculopathy, and cerebrovascular infarction 3–6 .…”

Paediatric Nephrology in Africa

“…In contrast, the prevalence of chronic kidney disease and congenital anomalies of the kidneys and urinary tract remains low due to the absence of screening or antenatal ultrasound investigation and thus often an underestimation. Apart from North Africa and the Republic of South Africa, genetic kidney diseases in children are infrequently reported in the continent due to cost and unavailability of the tests [ 9 , 10 ]. In North Africa, consanguinity contributes to the high prevalence of diseases such as sickle cell anaemia, hyperoxaluria and nephronophthisis while the hot arid climate coupled with high consanguinity promotes a high burden of urolithiasis in children [ 5 , 11 ].…”

Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study

“…As the kidneys mainly excrete oxalate, the main manifestations are nephrocalcinosis and nephrolithiasis, causing impaired kidney function that eventually progresses into kidney failure. 1 Primary hyperoxaluria type 1 (PH1), the most severe form of the disease, constitutes the majority (70%-80%) of all cases. [1][2][3] It is caused by the defects in the alanine-glyoxylate aminotransferase (AGT) gene (so-called AGXT), resulting in the prominent decrease or absence of enzyme activity.…”

“…1 Primary hyperoxaluria type 1 (PH1), the most severe form of the disease, constitutes the majority (70%-80%) of all cases. [1][2][3] It is caused by the defects in the alanine-glyoxylate aminotransferase (AGT) gene (so-called AGXT), resulting in the prominent decrease or absence of enzyme activity. 4 Five clinical presentations of PH1 have been described so far.…”