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      Litiasis de origen genético: el aporte de la espectroscopía infrarroja como herramienta diagnóstica Translated title: Genetic lithiasis: the contribution of infrared spectroscopy as a diagnostic tool

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          Abstract

          RESUMEN Las litiasis de origen genético son causadas por patologías hereditarias raras, en las que la acumulación de compuestos en orina se asocia con la formación de cálculos urinarios recurrentes, generando consecuencias perjudiciales para el paciente. La espectroscopía infrarroja por transformada de Fourier (FTIR) es una metodología de referencia en el análisis y la identificación inequívoca de compuestos presentes en los cálculos urinarios. El presente estudio tuvo el objetivo de describir el empleo de la técnica FTIR y su importancia como herramienta diagnóstica de las litiasis de origen genético en el Paraguay. El diseño fue observacional descriptivo y fueron analizados mediante FTIR cálculos urinarios provenientes de 740 pacientes con datos demográficos y clínicos. Del total, 104 fueron niños y 636 adultos. Se identificaron cálculos relacionados a patologías genéticas en 7 (0.9%) pacientes, siendo 5 de cistina y 2 de xantina, permitiendo el diagnóstico definitivo de cistinuria y xantinuria, respectivamente. La localización más común de los cálculos fue el riñón, el modo de eliminación más frecuente la cirugía y el de mayor tamaño tuvo 24x19x13 mm, siendo considerado como voluminoso. Fueron remitidos cálculos del primer episodio de 5 pacientes y de recidiva de 2 pacientes. El diagnóstico preciso de estas litiasis genéticas pudo realizarse gracias a la técnica FTIR, que permitió el conocimiento de la causa subyacente y orientar la elección de medidas terapéuticas específicas abocadas a disminuir el riesgo de recidivas y mejorar el nivel de vida de los pacientes afectados.

          Translated abstract

          ABSTRACT Lithiasis of genetic origin is caused by rare hereditary pathologies, in which the accumulation of compounds in urine is associated with the formation of recurrent urinary stones, generating detrimental consequences for the patient. Fourier transform infrared spectroscopy (FTIR) is a reference methodology in the analysis and unambiguous identification of compounds present in urinary calculi. The aim of this study was to describe the use of the FTIR technique and its importance as a diagnostic tool for genetic lithiasis in Paraguay. The design was observational descriptive and was analyzed by FTIR urinary stones from 740 patients with demographic and clinical data. Of the total, 104 were children and 636 adults. Stones related to genetic pathologies were identified in 7 (0,9%) patients, 5 of cystine and 2 of xanthine, allowing the definitive diagnosis of cystinuria and xanthinuria, respectively. The most common location of the stones was the kidney, the most frequent form of removal was surgery and the largest had 24x19x13 mm, considered as voluminous. Were submitted stones of the first episode of 5 patients and recurrence of 2 patients. The accurate diagnosis of these genetic lithiases was possible by means of the FTIR technique, which allowed knowledge of the underlying cause and to guide the choice of specific therapeutic measures aimed at decreasing the risk of recurrence and to improve the standard of living of patients.

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          Hereditary causes of kidney stones and chronic kidney disease.

          Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH, with an emphasis on childhood manifestations.
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            Pathophysiology and treatment of cystinuria.

            Cystinuria is a primary inherited aminoaciduria caused by mutations in the genes that encode the two subunits (neutral and basic amino acid transport protein rBAT and b(0,+)-type amino acid transporter 1) of the amino acid transport system b(0,+). This autosomal recessive disorder (in which few cases show dominant inheritance) causes a failure in the reabsorption of filtered cystine and dibasic amino acids in the proximal tubule. The clinical symptoms of this disease are caused by the loss of poorly soluble cystine, which precipitates to form stones. Although rare, the prevalence of cystinuria is sufficiently high that the disease results in a substantial contribution to pediatric renal lithiasis. A thorough understanding of cystine transport processes over the past 15 years and the genetic abnormalities responsible for the disease has led to a new classification of cystinuria and recognition that some cases result from an autosomal dominant etiology with incomplete penetrance. This Review examines the molecular and mechanistic effects of some of the mutations that cause cystinuria based on our current understanding of the structural and cellular biology of system b(0,+). This Review also describes the current treatments to prevent recurrent cystine lithiasis.
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              Cystinuria: an inborn cause of urolithiasis

              Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy subunit rBAT of a renal b0,+ transporter while SLC7A9 (chromosome 19q12) encodes its interacting light subunit b0,+AT. Mutations in SLC3A1 are generally associated with an autosomal-recessive mode of inheritance whereas SLC7A9 variants result in a broad clinical variability even within the same family. The detection rate for mutations in these genes is larger than 85%, but it is influenced by the ethnic origin of a patient and the pathophysiological significance of the mutations. In addition to isolated cystinuria, patients suffering from the hypotonia-cystinuria syndrome have been reported carrying deletions including at least the SLC3A1 and the PREPL genes in 2p21. By extensive molecular screening studies in large cohort of patients a broad spectrum of mutations could be identified, several of these variants were functionally analysed and thereby allowed insights in the pathology of the disease as well as in the renal trafficking of cystine and the dibasic amino acids. In our review we will summarize the current knowledge on the physiological and the genetic basis of cystinuria as an inborn cause of kidney stones, and the application of this knowledge in genetic testing strategies.
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                Author and article information

                Journal
                rspp
                Revista de salud publica del Paraguay
                Rev. salud publica Parag.
                INSTITUTO NACIONAL DE SALUD - MSP Y BS (Asunción, , Paraguay )
                2224-6193
                2307-3349
                June 2022
                : 12
                : 1
                : 32-38
                Affiliations
                [1] San Lorenzo Asunción orgnameUniversidad Nacional de Asunción orgdiv1Instituto de Investigaciones en Ciencias de la Salud Paraguay
                [2] Asunción Asunción orgnameUniversidad Nacional de Asunción orgdiv1Facultad de Ciencias Médicas orgdiv2Cátedra de Bioquímica Paraguay
                Article
                S2307-33492022000100032 S2307-3349(22)01200100032
                10.18004/rspp.2022.junio.32
                6a03f28b-4341-4346-849e-d75b30a5fd2f

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 07 February 2022
                : 02 March 2022
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 36, Pages: 7
                Product

                SciELO Paraguay

                Categories
                Artículos Originales

                Paraguay,xanthine,cystine,FTIR,Lithiasis,xantina,cistina,Litiasis
                Paraguay, xanthine, cystine, FTIR, Lithiasis, xantina, cistina, Litiasis

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