Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the  disorder

Filippova, T V; Svetlichnaya, D V; Rudenko, V I; Alyaev, Yuriy; Tadevosyan, E G; Азова, М. М.; Subbotina, T I; Gadzhieva, Z K; Asanov, A. Yu.; Khamidullin, K R; Pushkarev, Alina; Литвинова, М.М.

doi:10.18565/urology.2019.6.125-130

Cited by 3 publications

(3 citation statements)

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“…Генетически обусловленное нарушение метаболизма глиоксиловой кислоты приводит к усиленному накоплению в органеллах и цитоплазме гепатоцитов глиоксилата с последующим превращением в оксалат с образованием нерастворимых солей кальция [2,3]. Мутация c.508G>A (p.Gly170Arg) в гене AGXT, выявляемая в 25-40% случаев, наиболее часто является причиной первичной гипероксалурии типа 1 в европейских и северо-американских популяциях [4,5].…”

Section: актуальностьunclassified

Clinical experience of using denosumab in the treatment of hypercalcemia and oxalate osteopathy for a young patient with primary hyperoxaluria type 1.

Golounina¹,

Rozhinskaya²,

Grebennikova³

et al. 2021

Osteopor Bone Dis

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Primary hyperoxaluria are a group of rare genetic diseases caused by defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Clinical manifestations include recurrent nephrolithiasis and nephrocalcinosis, rapidly progressive chronic kidney disease subsequently leading to end-stage renal disease, systemic oxalosis, PTH-independent hypercalcemia, pancytopenia, oxalate osteopathy with osteosclerosis, pathological fractures and endocrinopathy. Regardless of the type of primary hyperoxaluria any conservative therapy is palliative and can only slow the progression of the disease but not prevent it completely. We report the case of a young male patient with genetically confirmed primary hyperoxaluria type 1 complicated by severe oxalate osteopathy and hypercalcemia, who received a combined liver/ kidney transplant after 10 years from the disease. Treatment with human monoclonal antibody to the receptor activator of nuclear factor kappa B ligand (RANKL) — denosumab allowed achieving normalization of calcium-phosphorus metabolism, significantly reduce the activity of bone resorption and improve clinical performance. Knowledge of the features of clinical manifestations, timely diagnosis and treatment of primary hyperoxaluria are important prognostic value for patients.

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Section: актуальностьunclassified

Clinical experience of using denosumab in the treatment of hypercalcemia and oxalate osteopathy for a young patient with primary hyperoxaluria type 1.

Golounina¹,

Rozhinskaya²,

Grebennikova³

et al. 2021

Osteopor Bone Dis

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“…Globally, an estimated genetic prevalence was 1 in 58,000 people who suffer with primary hyperoxaluria. With Type 1 accounting for around 80% of cases 4 . PH type I is caused by mutations in the AGXT gene, which encodes the liver‐specific enzyme alanine‐glyoxylate aminotransferase (AGT), AGT is responsible for converting glyoxylate to glycine, thereby preventing the formation of oxalate 5 .…”

Section: Introductionmentioning

confidence: 99%

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature

Alabdullah,

Soqia,

Douri

2024

Clinical Case Reports

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Key Clinical MessageCutaneous oxalosis is a rare manifestation of systemic oxalosis, typically associated with primary or secondary hyperoxaluria. We present a rare case of a 23‐year‐old female diagnosed with primary hyperoxaluria and end‐stage renal disease, who presented with papules on the palms without any vascular complications. The skin can be affected by oxalate deposition, resulting in various manifestations such as vascular complications or calcified nodules. In our case, the patient had primary hyperoxaluria and end‐stage renal disease but exhibited atypical features of cutaneous oxalosis. Histopathology confirmed the presence of oxalate crystals in the dermis, subcutis, and medium‐sized arteries. The mechanism of oxalate deposition in this case remains unclear. This case underscores the importance of considering cutaneous oxalosis in the differential diagnosis of patients with renal failure and skin lesions, and highlights the variability of clinical presentations in primary hyperoxaluria.

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“…In 65% of patients with calcium nephrolithiasis and in 70% with hypercalciuria may have a family history of the disorder [20]. More than 80 monogenic forms of urolithiasis are known, for example, xanthinuria, primary hyperoxaluria, cystinuria types A, B and AB, metabolic disorders of 2,8-dihydroxyadenine, Lesch-Nyhan syndrome and others [19,21]. However, the main form of urolithiasis represented by polygenic inheritance [22].…”

Section: Introductionmentioning

confidence: 99%

Modern vision on the problem of urolithiasis in children: Epidemiology, etiopathogenesis, clinical, diagnostics, treatment, metaphylaxis

Sagymbayeva

2021

J CLIN MED KAZ

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According to the study literature, urolithiasis remains one of the most common nosologies among the child population. In connection with the global changes in the health status of the population of our planet, the social significance of urolithiasis has recently acquired new relevance. The mechanism of stone formation is a complex process; stones are formed as a result of urine saturation with oxalates, calcium, uric acid, cystine. Most stones in children are located in the upper urinary tract. In 15%-25% of cases in children, urolithiasis may be asymptomatic. Diagnostics today are not difficult. If urolithiasis is suspected, first, among the instrumental research methods, ultrasound examination of the urinary tract is used, which identifies both X-ray-positive and X-raynegative stones. Nowadays, not all standards for treating obstructing stones of the upper urinary tract in children of various sizes and localizations, as well as the type of pelvis structure, have been defined. Simultaneously, new trends in treatment may change already existing standards. It should be noted that in the modern world and ways of metaphylaxis urolithiasis in children studied insufficiently. In the world literature, there is insufficient information on predicting the occurrence of recurrence of urolithiasis and ways to eliminate them. This literature review examines the epidemiology, etiopathogenesis of urolithiasis, diagnosis, existing treatment standards and metaphylaxis. Methods of active tactics of treatment of obstructive stones of the upper urinary tract are analysed in more detail.

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Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder

Cited by 3 publications

References 0 publications

Clinical experience of using denosumab in the treatment of hypercalcemia and oxalate osteopathy for a young patient with primary hyperoxaluria type 1.

Clinical experience of using denosumab in the treatment of hypercalcemia and oxalate osteopathy for a young patient with primary hyperoxaluria type 1.

Palmar papules as a manifestation of cutaneous oxalosis in primary hyperoxaluria: A case report and review of the literature

Modern vision on the problem of urolithiasis in children: Epidemiology, etiopathogenesis, clinical, diagnostics, treatment, metaphylaxis

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