HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.

A 24-year-old male with end-stage renal disease (ESRD) and disproportionately high uric acid plasma concentration was admitted to our unit. After studying the patient's medical history, as well as that of the entire family, hyperuricemia was discovered in his brother, while microscopic examination of his brother's and mother's urine revealed abundant uric acid crystals. After performing purine metabolic studies, it was determined that the two siblings suffered from partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (Kelley-Seegmiller syndrome). This report highlights the importance of clinical awareness and a thorough examination of the patient's medical history for establishing an early diagnosis and commencing treatment for such rare inherited metabolic disorders to prevent renal failure.

Substitution of renal function through skin catharsis: evidence from the classical period to the Middle Ages.

The skin's cleansing capacity has been known for centuries and has been used therapeutically and extensively for a great number of diseases. We studied the historical evolution of the methods used for catharsis through the skin, particularly for those in renal failure, by reviewing most of the existing ancient Greek and Byzantine codices dealing with the skin's cleansing capacity. From the fragments cited in this article, it is evident that the ancient medical writers were well aware of the mechanism of perspiration, and through this process the excretion of several body toxins, they knew about renal failure as well as the influence of environmental temperature on blood purification via the skin. To validate their views, we reviewed the seasonal variation of the average values for blood urea, creatinine, and electrolytes for 161 regular dialysis treatment (RDT) patients in four dialysis units in southern Greece. The estimations were carried out during the winter/summer 1997, 1998, and 1999 terms and included three winter months and three summer months. We traced an unexpectedly large number of references in the ancient and medieval Greek medical literature concerning detoxification through the skin, mainly regarding patients in renal failure. This seasonal variation hypothesis is supported by the results of our retrospective study: there was a difference of 16 mg/dL in the average blood urea (mean winter urea 182 mg/dL, mean summer urea 166 mg/dL). We suggest that the ancients had a vivid idea about the substitution of renal function by the skin's cleansing ability in renal failure. The previously mentioned phenomenon may be due to the elimination of blood urea through excessive perspiration. Our clinical results seem to verify their notions, and hence, the skin (like the peritoneum) may be considered a natural membrane for dialysis. We were unable to trace a similar report in the literature on the seasonal fluctuation of blood urea in dialysis patients.

Nephrology, a newly rich speciality, is looking for an illustrious ancestry: what about a famous grandfather?

Nephrology is a newborn speciality compared to the other medical specialities. However, the study of the urinary tract's physiology and pathology had begun simultaneously with the birth of medicine. The scientific revolution of the renaissance and enlightenment eras caused an intense contestation of earlier theories and methods as if all knowledge had evolved suddenly from parthenogenesis after the dark (?) medieval years and human intellect suddenly exploded to huge intelligence quotients after the 15th century while before that humans were mentally deprived. Indeed most of the scientific knowledge did evolve impressively during renaissance and enlightenment years but not through parthenogenesis. Some observations, discoveries and inventions of this era were actually reobservations, rediscoveries and reinventions. Such an example is that of the experiments of Sanctorius Santorii of the 16th century AD and of Erasistratus of the 3rd century BC. Sanctorius and Erasistratus carried out an experiment with the same basic principles, similar methodology and proportional results with an almost 2000 years lag phase. With our paper we wish to give credit to earlier researchers of physiological and medical knowledge who, despite the lack of technological support, often concluded in extremely accurate observations.