Bernd Hoppe1, Cristina Martin-Higueras2, Nina Younsi3, Raimund Stein3. 1. Kindernierenzentrum Bonn, Deutsches Hyperoxaluriezentrum, Im Mühlenbach 2b, 53127, Bonn, Deutschland. Bhoppe@hyperoxaluria-center.com. 2. Kindernierenzentrum Bonn, Deutsches Hyperoxaluriezentrum, Im Mühlenbach 2b, 53127, Bonn, Deutschland. 3. Zentrum für Kinder‑, Jugend- und rekonstruktive Urologie, Universitätsmedizin Mannheim, 68167, Mannheim, Deutschland.
Abstract
BACKGROUND: Nephro- or urolithiasis is a common disease. The prevalence of the disease is increasing in both pediatric and adult patients. The genomic calculation of prevalence may reveal higher levels than the previous diagnosis rates. Monogenic kidney stone disease has been identified in 30% of pediatric and 10% of adult patients. OBJECTIVES: Even if it seems legitimate to assume that there is no specific underlying disease in the case of a one-time stone episode, such a disease must be excluded in the pediatric patient. Therefore, the present study discusses in detail the evaluation and treatment of kidney stones in children. METHODS: Repeated analysis of 24 h urine samples, or multiple spot urine samples in infants and young children, usually provides evidence of the underlying pathology. In addition, any stone removed should be analyzed. These findings are followed by directed genetic diagnostics. Ultrasonography is the preferred diagnostic method. For symptomatic stones, a minimally invasive method of stone removal is chosen if possible, but not every stone needs to be removed. Family workup must be performed, when a specific diagnosis is made in an index case. CONCLUSION: Early diagnosis is important to avoid recurrences despite the few treatment options available. Delayed diagnosis can have catastrophic consequences for patients (e.g., renal failure). Standard treatment with hyperhydration and alkali citrate treatment alone often helps prevent recurrences. New therapeutic options give hope that stone diseases will become more treatable. Finally, early diagnosis often avoids problematic courses.
BACKGROUND: Nephro- or urolithiasis is a common disease. The prevalence of the disease is increasing in both pediatric and adult patients. The genomic calculation of prevalence may reveal higher levels than the previous diagnosis rates. Monogenic kidney stone disease has been identified in 30% of pediatric and 10% of adult patients. OBJECTIVES: Even if it seems legitimate to assume that there is no specific underlying disease in the case of a one-time stone episode, such a disease must be excluded in the pediatric patient. Therefore, the present study discusses in detail the evaluation and treatment of kidney stones in children. METHODS: Repeated analysis of 24 h urine samples, or multiple spot urine samples in infants and young children, usually provides evidence of the underlying pathology. In addition, any stone removed should be analyzed. These findings are followed by directed genetic diagnostics. Ultrasonography is the preferred diagnostic method. For symptomatic stones, a minimally invasive method of stone removal is chosen if possible, but not every stone needs to be removed. Family workup must be performed, when a specific diagnosis is made in an index case. CONCLUSION: Early diagnosis is important to avoid recurrences despite the few treatment options available. Delayed diagnosis can have catastrophic consequences for patients (e.g., renal failure). Standard treatment with hyperhydration and alkali citrate treatment alone often helps prevent recurrences. New therapeutic options give hope that stone diseases will become more treatable. Finally, early diagnosis often avoids problematic courses.
Authors: Francisco R Spivacow; Elisa E Del Valle; Juan A Boailchuk; Gaudencio Sandoval Díaz; Viridiana Rodríguez Ugarte; Zila Arreaga Álvarez Journal: Pediatr Nephrol Date: 2020-06-20 Impact factor: 3.714
Authors: Nikolaos Grivas; Kay Thomas; Tamsin Drake; James Donaldson; Andreas Neisius; Aleš Petřík; Yasir Ruhayel; Christian Seitz; Christian Türk; Andreas Skolarikos Journal: J Pediatr Urol Date: 2020-07-04 Impact factor: 1.830