Article
Pediatrics
Evgenia Gurevich, Shelly Levi, Yael Borovitz, Hadas Alfandary, Liat Ganon, Dganit Dinour, Miriam Davidovits
Summary: The study found that patients with hypercalcemia, hypercalciuria, nephrocalcinosis, or nephrolithiasis may be caused by mutations in CYP24A1 and SLC34A genes. While improvements in hypercalcemia and 1,25-(OH)(2)D levels may occur, not all patients showed improvements in hypercalciuria and nephrocalcinosis.
FRONTIERS IN PEDIATRICS
(2021)
Article
Endocrinology & Metabolism
Colin P. Hawkes, Sani M. Roy, Bassem Dekelbab, Britney Frazier, Monica Grover, Jaime Haidet, James Listman, Sarianne Madsen, Marian Roan, Celia Rodd, Aviva Sopher, Peter Tebben, Michael A. Levine
Summary: This study highlights the association of acute hypercalcemia in children on the ketogenic diet, especially in the presence of renal impairment. Most patients were able to maintain normal calcium levels after treatment, with only a few experiencing recurrence of hypercalcemia.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Medicine, Research & Experimental
Mario Basulto-Martinez, Barbara Pena-Espinoza, Rafael Valdez-Ortiz, Rachel Escalante-Sosa, Juan Pablo Flores-Tapia, Marta Menjivar
Summary: Common metabolic abnormalities in urinary stone patients in the Maya region of Mexico include hypocitraturia, hypercalciuria, hypomagnesuria, hyperoxaluria, and hyperuricosuria. Interestingly, a deficiency of inhibitors such as citrate and magnesium is highly prevalent and may be influenced by other metabolic conditions and malnutrition.
ARCHIVES OF MEDICAL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Nina Lenherr-Taube, Michelle Furman, Esther Assor, Yesmino Elia, Carol Collins, Kenneth Thummel, Michael A. Levine, Etienne Sochett
Summary: Idiopathic infantile hypercalcemia is a rare disorder with variable clinical features and the response to dietary calcium and vitamin D restriction in mild cases is not able to consistently normalize elevated 1,25(OH)2D concentrations or prevent worsening of renal calcification. Therapeutic options should focus on the defect in vitamin D metabolism.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Urology & Nephrology
Muhammad G. Arnous, Jennifer Arroyo, Andrea G. Cogal, Franca Anglani, Hee Gyung Kang, David Sas, Peter C. Harris, John C. Lieske
Summary: This study retrospectively analyzed the clinical and genetic factors of 162 DD1 patients and found that truncating variants associated with the CLCN5 gene were closely related to kidney stone formation and progression of chronic kidney disease in DD1 patients, while nontruncating variants were not associated with microproteinuria and nephrocalcinosis. As for kidney failure, only truncating variants were associated with it. The severity of the disease in patients may be related to the degree of residual ClC-5 function.
KIDNEY INTERNATIONAL REPORTS
(2023)
Review
Pediatrics
Flavia Cristina Carvalho Mrad, Silvia Bouissou Morals Soares, Luiz Alberto Wanderley de Menezes Silva, Pedro Versiani dos Anjos Menezes, Ana Cristina Simoes-e-Silva
Summary: Bartter's syndrome is a rare group of salt losing tubulopathies caused by impaired transport mechanisms at the thick ascending limb of the Henle's loop. Different subtypes of BS have been identified, each caused by mutations on specific genes. Clinical and biochemical alterations in BS include polyuria, dehydration, electrolytic disturbances and failure to thrive. Early diagnosis and treatment are crucial to prevent long-term consequences in BS patients.
WORLD JOURNAL OF PEDIATRICS
(2021)
Article
Medicine, Research & Experimental
Norma E. Guerra Hernandez, Laura I. Escobar Perez, Dora Aguilera, Maria Dolores Camargo-Muniz, Cinthya Fabiola Cecena Espinosa, Maria de la Cruz Ruiz Jaramillo, Carolina Salvador, Zinaeli Lopez Gonzalez, Marguerite Hureaux, Rosa Vargas-Poussou
Summary: In this study, clinical and genetic analysis was performed on nine patients from unrelated non-consanguineous Mexican families. Loss-of-function variants in the SLC12A1, KCNJ1, and CLCNKB genes were identified in four patients with Antenatal Bartter syndrome (ABS) and in two patients with Classic Bartter syndrome (CBS). Rating: 8 out of 10.
ARCHIVES OF MEDICAL RESEARCH
(2023)
Review
Urology & Nephrology
Daniele Castellani, Carlo Giulioni, Virgilio De Stefano, Carlo Brocca, Demetra Fuligni, Andrea Benedetto Galosi, Jeremy Yuen-Chun Teoh, Kemal Sarica, Vineet Gauhar
Summary: This systematic review evaluates the dietary management of hypocitraturia in children with urolithiasis. The results show that oral potassium citrate combined with high fluid intake has a positive effect on stone resolution and recurrence. This treatment method is effective and safe across all pediatric ages.
WORLD JOURNAL OF UROLOGY
(2023)
Article
Pediatrics
Kagnur Ramya, Sriram Krishnamurthy, Ramanitharan Manikandan, Palanisamy Sivamurukan, Bikash Kumar Naredi, Pediredla Karunakar
Summary: The study revealed that among children with urolithiasis, hyperoxaluria, idiopathic hypercalciuria, idiopathic hyperuricosuria, and cystinuria were the predominant identifiable entities, together accounting for 72% of cases; and renal colic, hematuria and urinary tract infection were the commonest clinical complaints.
INDIAN JOURNAL OF PEDIATRICS
(2021)
Article
Urology & Nephrology
Daniel Rodriguez, Ekaterina Gurevich, Soroush Mohammadi Jouabadi, Eva Maria Pastor Arroyo, Alexander Ritter, Sandrine Estoppey Younes, Carsten A. Wagner, Pedro Henrique Imenez Silva, Harald Seeger, Nilufar Mohebbi
Summary: This study investigated the association between serum sclerostin levels and recurrent kidney stone formation. The findings suggest that sclerostin levels are increased in recurrent kidney stone formers, particularly in women. There was an association between serum sclerostin and the status as a recurrent kidney stone former, independent of hypercalciuria. However, further studies are needed to understand the underlying mechanisms.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Health Care Sciences & Services
Maxime Ilzkovitz, Elikyah Esther Kayembe, Caroline Geers, Agnieszka Pozdzik
Summary: This study reported a rare case of kidney stone disease in an Indian woman with a strong association with Sjogren syndrome, highlighting the importance of autoimmune screening in the diagnosis of such conditions.
Article
Transplantation
Francesco Trepiccione, Steven B. Walsh, Gema Ariceta, Olivia Boyer, Francesco Emma, Roberta Camilla, Pietro Manuel Ferraro, Dieter Haffner, Martin Konrad, Elena Levtchenko, Sergio Camilo Lopez-Garcia, Fernando Santos, Stella Stabouli, Maria Szczepanska, Velibor Tasic, Rezan Topaloglu, Rosa Vargas-Poussou, Tanja Wlodkowski, Detlef Bockenhauer
Summary: Distal renal tubular acidosis (dRTA) is a rare metabolic disorder characterized by impaired acid excretion leading to complications such as bone disease and growth failure. Adequate metabolic control with alkali supplementation is crucial, but there are challenges with treatment adherence among patients.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Article
Urology & Nephrology
Corrado Vitale, Martino Marangella, Francesca Bermond, Laura Fabbrini, Alberto Tricerri
Summary: The study found that cholecalciferol supplementation may increase calcium excretion or reveal an underlying condition of absorptive hypercalciuria, potentially leading to an increase in urine supersaturation with calcium salts and a higher risk of stone formation.
WORLD JOURNAL OF UROLOGY
(2021)
Article
Pediatrics
German Perez-Suarez, Ma Isabel Luis Yanes, Maria Cecilia Martin Fernandez de Basoa, Elena Sanchez Almeida, Victor M. Garcia Nieto
Summary: In patients with idiopathic hypercalciuria, bone mineral density improves over time, especially in females, with increases in body weight and reductions in bone resorption playing key roles. Urine calcium and citrate excretion tend to decrease in adulthood, indicating a persistent risk of kidney stone formation. The exact cause of this decrease remains unknown, but is likely related to changes in bone activity.
PEDIATRIC NEPHROLOGY
(2021)
Article
Pediatrics
Anita Mandal, Priyanka Khandelwal, Thenral S. Geetha, Sakthivel Murugan, Jitendra Meena, Manisha Jana, Aditi Sinha, Rajeev Kumar, Amlesh Seth, Pankaj Hari, Arvind Bagga
Summary: This study evaluated the metabolic and genetic abnormalities in children with nephrolithiasis in North India. The most common metabolic abnormalities were hypercalciuria and hyperoxaluria, and a monogenic etiology was identified in some patients. These findings suggest that a combination of metabolic and genetic evaluation is useful for determining the etiology of nephrolithiasis.
INDIAN JOURNAL OF PEDIATRICS
(2022)