Harnsteine

Hesse, Albrecht

doi:10.1007/s00120-002-0235-x

Cited by 17 publications

(1 citation statement)

References 24 publications

(26 reference statements)

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“…With infrared spectroscopy the loss of energy in the infrared spectrum due to the circulation of the activated chemical molecules is determined. The diagrams of either method (the so-called fingerprints) provide an exact analysis [34]. …”

Section: Introductionmentioning

confidence: 99%

Diagnostic examination of the child with urolithiasis or nephrocalcinosis

2008

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Urolithiasis and nephrocalcinosis are more frequent in children then currently anticipated, but still remain under- or misdiagnosed in a significant proportion of patients, since symptoms and signs may be subtle or misleading. All children with colicky abdominal pain or macroscopic hematuria should be examined thoroughly for urolithiasis. Also, other, more general, abdominal manifestations can be the first symptoms of renal stones. The patients and their family histories, as well as physical examination, are important initial steps for diagnostic evaluation. Thereafter, diagnostic imaging should be aimed at the location of calculi but also at identification of urinary tract anomalies or acute obstruction due to stone disease. This can often be accomplished by ultrasound examination alone, but sometimes radiological methods such as plain abdominal films or more sensitive non-enhanced computed tomography are necessary. Since metabolic causes are frequent in children, diagnostic evaluation should be meticulous so that metabolic disorders that cause recurrent urolithiasis or even renal failure, such as the primary hyperoxalurias and others, can be ruled out. The stone is not the disease itself; it is only one serious sign! Therefore, thorough and early diagnostic examination is mandatory for every infant and child with the first stone event, or with nephrocalcinosis.

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Section: Introductionmentioning

confidence: 99%

Diagnostic examination of the child with urolithiasis or nephrocalcinosis

2008

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Molecular Genetics of Cystinuria

Eggermann¹

2012

Encyclopedia of Life Sciences

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Among the kidney stone diseases, cystinuria (OMIM 220100 ) is unique as it is exclusively caused by genomic alterations. Cystinuria is associated with mutations in the SLC3A1 and the SLC7A9 genes encoding the subunits rBAT and b 0,+ AT of the renal b 0,+ transporter. Mutations in SLC3A1 are usually inherited autosomal recessively, but SLC7A9 mutations result in a broad clinical variability. The detection rate for mutations is influenced by the ethnic origin of the patient and by the functional significance of the variant. As a result, mutations cannot be detected in 100% of alleles, but it reaches approximately 85%. In case of SLC3A1 , large rearrangements in 2p21 cause cystinuria and severe hypotonia (hypotonia–cystinuria syndrome – HCS). Meanwhile, a large number of mutations in both genes have been reported, several of these variants were functionally analysed. Thereby, the aetiology of the disease as well as the physiological mechanisms of the renal trafficking of cystine could be deciphered. Key Concepts: Cystinuria is characterised by the defect transport of cystine, resulting in cystine stone formation. With SLC3A1 and SLC7A9, two disease causing genes have been identified. SLC3A1 and SLC7A9 encode the two subunits of the amino acid transporter b 0,+ . Mutations in SLC3A1 are predominantly associated with an autosomal recessive inheritance, whereas SLC7A9 mutations show an autosomal dominant inheritance with an incomplete penetrance. Homozygosity for large genomic deletions affecting both the SLC3A1 and the PREPL gene in 2p21 cause the hypotonia–cystinuria syndrome.

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Pr�vention der Nephrolithiasis

Straub

Hautmann

2004

Der Urologe A

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During the last 2 decades in Germany, only minor efforts were expended for the prevention of urinary stones. Substantial technical progress simplified the treatment of existing calculi; thus, it was more convenient to treat a new stone than to prevent its recurrence. But times change! In these days of financial squeeze in the medical system, prevention becomes more attractive. Nevertheless, strategies for kidney stone prevention developed. Established concepts for dietary advice were rejected due to the results of new randomized studies. Moreover, new pharmacological substances were introduced for metaphyalxis. The new concepts are feasible for the daily routine. For some treatment modalities in stone prevention, there is valid evidence from the literature, which should encourage us to adopt these modalities in the future. A number of drugs are used as "good common practice" without any proof from a randomized trial. Often prospective and valid studies are not available. The present paper intends to describe the status quo of nephrolithiasis prevention in Germany, focussing on confirmed data and unsolved problems.

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Harnsteine

Cited by 17 publications

References 24 publications

Diagnostic examination of the child with urolithiasis or nephrocalcinosis

Diagnostic examination of the child with urolithiasis or nephrocalcinosis

Molecular Genetics of Cystinuria

Pr�vention der Nephrolithiasis

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