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Nephrolithiasis und Nephrokalzinose bei Kindern und Jugendlichen

Nephrolithiasis and nephrocalcinosis in children and adolescents

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Zusammenfassung

Hintergrund

Die Nephro- bzw. Urolithiasis ist, auf die gesamte Bevölkerung bezogen, eine häufige Erkrankung. Die Prävalenz der Erkrankung ist sowohl bei pädiatrischen als auch erwachsenen Patienten steigend. Die genomisch kalkulierten Prävalenzen können dabei höher als die bisherige Diagnoserate sein. Bei 30 % der pädiatrischen sowie 10 % der erwachsenen Patienten wurden monogene Nierensteinerkrankungen gefunden.

Fragestellung

Auch wenn es bei einer einmaligen Steinepisode legitim erscheint, von keiner spezifischen Grunderkrankung auszugehen, so muss beim pädiatrischen Patienten eine solche ausgeschlossen werden. Die vorliegende Arbeit erläutert deswegen ausführlich die Abklärung und Behandlung von Nierensteinen im Kindesalter.

Methoden

Die wiederholte Analyse von 24-h-Sammelurinen oder mehreren Spontanurinproben bei Säuglingen und Kleinkindern ergibt meist wegweisende Befunde. Außerdem sollte jeder entfernte Stein analysiert werden. Diesen Befunden folgt eine gerichtete genetische Diagnostik. Bildgebung der ersten Wahl ist eine Ultraschalluntersuchung. Bei symptomatischen Steinen sollte eine möglichst minimal-invasive Methode zur Steinentfernung gewählt werden, aber nicht jeder Stein muss unbedingt entfernt werden. Bei spezifischer Diagnose muss eine Familienabklärung erfolgen.

Schlussfolgerung

Frühzeitige Diagnostik ist wichtig, um trotz der wenigen Therapieoptionen Rezidive zu vermeiden. Eine verschleppte Diagnose kann für die Patienten katastrophale Konsequenzen haben (z. B. Niereninsuffizienz). Schon alleine die Standardbehandlung mit Hyperhydratation und Alkalizitrat-Behandlung hilft oft, Rezidive zu verhindern. Neue Therapieoptionen lassen hoffen, dass Steinerkrankungen besser behandelbar werden. Eine frühzeitige Diagnose vermeidet oft problematische Verläufe.

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.

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Authors and Affiliations

  1. Kindernierenzentrum Bonn, Deutsches Hyperoxaluriezentrum, Im Mühlenbach 2b, 53127, Bonn, Deutschland

    Bernd Hoppe & Cristina Martin-Higueras

  2. Zentrum für Kinder‑, Jugend- und rekonstruktive Urologie, Universitätsmedizin Mannheim, 68167, Mannheim, Deutschland

    Nina Younsi & Raimund Stein

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  1. Bernd Hoppe
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  2. Cristina Martin-Higueras
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  3. Nina Younsi
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Correspondence to Bernd Hoppe.

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Interessenkonflikt

B. Hoppe war bis Mai 2022 Angestellter der Firma Dicnerna/Novo Nordisk, Dänemark, C. Martin-Higueras ist deren Berater. N. Younsi und R. Stein geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Hoppe, B., Martin-Higueras, C., Younsi, N. et al. Nephrolithiasis und Nephrokalzinose bei Kindern und Jugendlichen. Urologie 61, 1099–1109 (2022). https://doi.org/10.1007/s00120-022-01888-3

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