In the case of primary hyperoxaluria, patients have kidney stones made of calcium oxalate. Observations through SEM show that the crystal of such kidney stones have a unique morphology. It is thus possible to define medical diagnosis of this severe genetic disorder through scanning electron microscopy. This work has been published in New england jornal of medicine
Well, as seen from the chemical point of view, this is very likely possible. Crystal formation, growth and design from enriched solutions in chemistry is influenced by certain chemical additives, called surfactants, which up to certain level can modify the microscopic shape and surface morphology of the crystal particles. From a certain point, kidneys can be seen as a chemical reactor where the conditions are just right for the crystal formation to take place, which is very well known from the formation of kidney stones. Now, if chemical surfactants found in urine, that are responsible and ca influence the morphology crystals as seen by means of SEM can be uniquely assigned to the genetic disorder in this case, that could be a good diagnostic methodology for the genetic disease diagnosis.
But more likely for the early disease diagnosis, just the mentioned presence of once determined surfactants in the urine by means of spectroscopic methods (UV/Vis, Raman) or some other diagnostic methods, would be much quicker than waiting for the crystals to form.
Dear Prof. A. Volinski,
It is a good idea and we have try already to perform EDX. Unfortunately, in the case of kidney stones, EDX gives you only major elements (i.e. present in the stoechimetric formulae) and not trace elements and thus it is not possible to distinguish between calcium oxalate stones due to alimentation disorder and calcium oxalate stones due to genetic disorder. Advantages of SEM versus classical genetic techniques comes from the fact that it is a technique quite cheap that you can find in almost every physic and chemical lab but not at in the hospital. Nevertheless if you have some patients with primary hyperoxaluria you can send me the kidney stones and i can try to made some osbervations.
Sincerely
D. Bazin
Diagnosis is made from history taking and physical examination and then confirmed by investigation. As far as I know that genetic diseases are confirmed by genetic testing by finding mutation of the gene or any other alteration of the gene or etc
Yes. kidney stones or renal calculus run in the family. In this case SEM has been used to look at the micro structure of that formed crystals. If that morphology is same amongst all family members then It can be said that it runs in the family. However I belive one need to identify the targeted gene alteration which is been responsible for the inhibitor of the stone formation.
My research group is developing in vitro model systems for examining the crystallochemical mechanisms that might be involved in calcium oxalate stone formation (and calcium phophate Randall's plaque that sometimes serves as a nidus). I believe there are some morphological features that can potentially serve as mineralogical signatures to help identify the mechanism of stone formation. Our work is not at the genetic level, but at the chemical and materials level, such as conditions of high calcium, oxalate, certain proteins and other crystal modifiers, all of which might be expected to lead to specific morphological features. But the mineralogical signatures could then be correlated to the genetic condition (or other) cause of the disease. Therefore, I agree that the morphological evaluations of the stone's exterior and SEM and EDS of the interior microstructure could one day prove valuable in suggesting a potential diagnosis of how the stone formed, which could then lead to testing for the reasons as to why the stone formed (genetic or other testing).
Very interesting research. Can you send me your publications please ([email protected])
thanks in advance
Dominique
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