[Study of a intestinal enteroliths in human patient with colon adenocarcinoma. Is it similar to renal calculi?]. / Estudio de un cálculo intestinal en un paciente con adenocarcinoma de colón. Es similar a los cálculos renales?

This work shows the study performance to intestinal enterolithis from a 91 year old patient with multiple enterolithiasis confirmed by abdominal X-ray and TAC analyses showing the presence of intestinal, renal and bile stones. This enterolithis is associated with colon adenocarcinoma. The enteroliths were obtained by hemicolectomia and were analyzed by infrared spectroscopy (IR), giving non-stoichiometry carbonate apatite whitloquite-like with, possibly, organic material. By atomic emission spectroscopy we found Ca, Mg, K, Na and K (mg/100 mg of calculi) and Zn, Ba, Mn, Fe, Cu, Si, Ti and Br in minor proportion (microg/100 mg of calculi). Because of calculi morphology and the IR spectra (non-stoichiometry carbonate apatite) we carried out analysis by high performance liquid chromatography (HPLC) and found coproporphyrin (about microg/g of calculi) and uroporphyrin, protoporphyrin and heptacarboxy-porphyrin in minor extent. Calculi were also studied by scanning electronic microscopy and EDX and X-ray diffraction giving crystals of CaP4O11. All these results show that intestinal enteroliths composition are similar to renal calculi although its morphology differs from renal calculi.

[Hyperthrombophilia status in a patient without thrombotic events]. / Paciente en estado de hipertrombofilia sin eventos trombóticos.

Some case reports have been published in the literature about thrombosis associated with several risk factors, especially in hypercoagulability state. Nevertheless, we have not found any description of a case like this of hyperthrombophilia status without thrombotic events. We present a 75 year old woman who was assessed for thrombophilia state on occasion of a deep venous thrombosis which affected to her daughter. Many thrombosis risk factors were detected (13 altogether), both inherited and acquired, arterial and venous, that surprisingly, have not led to any thrombosis event. Its description led us to highlight the risk factors of this patient and to open questions about the present knowledge on etiology and etiopathogenesis of thrombotic phenomena.

[Autoimmune hepatitis]. / Hepatitis autoinmune.

Autoimmune hepatitis (AIH) is a hepatocellular inflammation that is characterised by a wide range of histopathologic (periportal interface hepatitis with plasma cell infiltration and piecemeal necrosis), biochemical (hypertransaminasemia, hypergammaglobulinaemia) and autoimmune (several autoantibodies presence) features. This relatively rare disorder frequently affects middle-aged women. There is no pathognomonic marker for AIH diagnosis, therefore it requires a careful rule out of other causes of liver disease together with the detection of a suggestive pattern of clinical and laboratory abnormalities. Scoring system for AIH diagnosis proposed by International Autoimmune Hepatitis Group has been used as a tool in clinical practice but is not sufficiently exclusive in terms of defining prognosis or treatment. AIH has been classified in two subtypes according to autoantibodies detected: 1 and 2, but this classification results in poor clinical implications. Previously known as subtype 3 is at the present included in subtype 1 because no clinical significant differences has been found between them. Aetiology, and molecular mechanisms still remain to be elucitaded in this disease, although viruses, drugs and molecular mimicry act presumably as a trigger in genetically predisposed patients (associated with HLA-DR3 and DR4 haplotypes). On the other hand, immunosuppressive therapy (corticosteroid or azathioprine) generally offers favourable response. Our aim is to review this disease from different points of view, considering: clinical, histopathological, etiologic, genetic, biochemical, autoimmune, treatment and prognosis features.

[Cystinuria update: clinical, biochemical and genetic aspects]. / Actualización de la cistinuria: aspectos clínicos, bioquímicos y genéticos.

Cystinuria is an autosomal recessive disorder with an estimated incidence of 1 case in 7000 live births, that results in elevated urinary excretion of cystine and dibasic aminoacids: ornithine, lysine and arginine. Discussed by Sir Archibald Edward Garrod, in 1908, as one of the four first known inborn errors of metabolism, it is characterized by a defect in transport of cystine and dibasic aminoacids, that affects their reabsortion in both renal tubule and gastrointestinal tract. To date, according to the recent molecular findings, two genes have been identified as responsible for this disease: SLC3A1 and SLC7A9. A more accurate pheno/genotyping identification of cystinuric patients will allow to improve prophilaxis and therapy for this illness. Cystinuria only causes recurrent urolithiasis (about 1-2 / of renal calculi in adults) and its associated complications as clinical feature because of poor cystine solubility at low pH. An accurate control over prohylaxis (based on high water intake and potassium citrate treatment, on first line, and tiol-derivatives treatment, on second line) must be taken in patients -like homozygous type I- with high lithiasis risk. However, approximately one half of patients under prophylaxis control will develop recurrent lithiasis; in this case, only urology or surgical approaches would be possible. 474 Updated knowledge about biochemical, genetic, clinical, diagnosis, prevention, treatment and prognosis aspects of this, relatively unusual, disease has been reviewed in this article.