Renal tubular acidosis in the Silver-Russell syndrome.

Several patients with the Silver-Russell syndrome (SRS) attending our Genetics Clinic were diagnosed as having persistent metabolic acidosis. Since this abnormality has not been reported previously in the SRS, we reexamined 33 SRS patients to evaluate the frequency and type of metabolic acidosis, the clinical and laboratory findings, and the growth pattern in SRS patients with and without metabolic acidosis. Among them, 14 had a consistent decrease in HCO3- levels. Renal studies in acidotic patients showed urine pH of 5.8 and 24 h urine calcium of < 2.4 mg/kg/24 h; serum creatinine, excretion of glucose, and amino acids were normal, as were renal ultrasound and excretory urography findings. These data supported the diagnosis of renal tubular acidosis, probably type II; the patients were treated with oral bicarbonate and acidosis was corrected successfully. Clinical manifestations were similar in acidotic and non-acidotic patients. The nutritional indices at diagnosis and at last evaluation (at least 8 months after diagnosis) were abnormally low in all patients; however, acidotic patients, treated with bicarbonate, showed an improvement of nutritional status particularly in the weight/height index, although the difference between groups after follow-up did not reach statistical significance. We suggest that metabolic acidosis due to renal tubular acidosis, probably type II, may occur in children with the SRS and should be looked for and treated in all patients.

[Nephropathy in Schönlein-Henoch purpura]. / Nefropatía en la púrpura de Henoch Schonlein.

Over one hundred patients diagnosed with vascular purpura at the National Institute of Pediatrics between 1979 and 1988 were retrospectively studied. Frequency was similar for both sexes. 82% were between the ages of six months and 11 years old. The extrarenal clinical manifestations were: petechias in 98%; abdominal pain 78% arthralgias 45%; melena 39%; and arthritis in 19% of the cases, 49 patients had nephropathy of different degrees and they did differently, 32 had hematuria with or without proteinuria within a nephrotic range, seven suffered from a nephrotic syndrome, one with a nephritic syndrome and nine others had a combination of two or three syndromes (nephritic/nephrotic/renal failure) with an unfavorable evolution towards terminal renal failure in eight of them; on the other hand, this was not seen in the remaining patients. Thirteen renal biopsies were taken from patients with more severe clinical manifestations, finding in them mesangial proliferation or endo- and extracapillary proliferation. These findings suggest that the initial clinical presentation of the illness allows for the prediction of the future.