Indian pediatrics · 2020
Etiological Profile of Nephrocalcinosis in Children from Southern India.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Ramya Kagnur, Krishnamurthy Sriram, Sivamurukan Palanisamy
Аннотация
OBJECTIVE: To study the etiological profile and patterns of clinical presentation of nephrocalcinosis.
METHODS: In this observational study, patients 18 years or younger, referred to the pediatric nephrology clinic with nephrocalcinosis were evaluated for etiology. Symptoms/signs at presentation, estimated glomerular filtration rate (eGFR) at presentation and follow-up, and growth parameters were recorded.
RESULTS: The etiology of nephrocalcinosis (n=54) included distal renal tubular acidosis (n=18; 33.3%), primary hyperoxaluria (n=9; 16.7%), Bartter syndrome (n=7; 13%), Dent disease (n=4; 7.4%), cystinosis, familial hypomagnesemia with hypercalciuria and idiopathic hypercalcemia of infancy (2 each). Idiopathic nephrocalcinosis was seen in 5 (9.3%) children. Clinical features included failure to thrive (53.7%), polyuria (44.4%), bony deformities (31.5%) and hypokalemic paralysis (11.1%). At a median (IQR) follow-up of 24 (8, 56) months, the mean (SD) eGFR had improved from 59 (25.5) to 77 (31.48) mL/min/1.73m2 (P<0.01). Consanguinity was present in 50% (27/54). Genetic analysis in 5 primary hyperoxaluria cases confirmed AGXT mutations in 4; and GRHPR mutation in 1 child.
CONCLUSIONS: Distal RTA, primary hyperoxaluria and Bartter syndrome were the common etiologies of nephrocalcinosis in our patient population.
METHODS: In this observational study, patients 18 years or younger, referred to the pediatric nephrology clinic with nephrocalcinosis were evaluated for etiology. Symptoms/signs at presentation, estimated glomerular filtration rate (eGFR) at presentation and follow-up, and growth parameters were recorded.
RESULTS: The etiology of nephrocalcinosis (n=54) included distal renal tubular acidosis (n=18; 33.3%), primary hyperoxaluria (n=9; 16.7%), Bartter syndrome (n=7; 13%), Dent disease (n=4; 7.4%), cystinosis, familial hypomagnesemia with hypercalciuria and idiopathic hypercalcemia of infancy (2 each). Idiopathic nephrocalcinosis was seen in 5 (9.3%) children. Clinical features included failure to thrive (53.7%), polyuria (44.4%), bony deformities (31.5%) and hypokalemic paralysis (11.1%). At a median (IQR) follow-up of 24 (8, 56) months, the mean (SD) eGFR had improved from 59 (25.5) to 77 (31.48) mL/min/1.73m2 (P<0.01). Consanguinity was present in 50% (27/54). Genetic analysis in 5 primary hyperoxaluria cases confirmed AGXT mutations in 4; and GRHPR mutation in 1 child.
CONCLUSIONS: Distal RTA, primary hyperoxaluria and Bartter syndrome were the common etiologies of nephrocalcinosis in our patient population.