title: Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria.
abstract: A distal acidification defect is frequently observed in the syndrome of familial hypomagnesaemia-hypercalciuria and hence this condition can be confused with primary distal renal tubular acidosis (RTA). This study demonstrates that in four unrelated patients with familial hypomagnesaemia-hypercalciuria the acidification defect is functionally different from that present in primary distal RTA. All patients exhibited hypomagnesaemia, hypermagnesuria, hypercalciuria, hyposthenuria, nephrocalcinosis and slight reduction of glomerular filtration rate (GFR). A moderate degree of metabolic acidosis was also present and basal data showed an inappropriately high urine pH (5.7-5.9) and a positive urine anion gap (Na + K-Cl = 11-28 mmol/l). Stimulation of distal acidification induced a fall in urine pH (4.7-5.6), but ammonium excretion remained low despite factoring by GFR (26-46 mumol/min per 1.73 m2, 35-54 mumol/100 ml GF). The urine to blood PCO2 gradient also remained low after sodium bicarbonate loading (1.3-17.7 mmHg). These results are best explained by both defective ammonia transfer to the deep nephron and impaired hydrogen ion secretion at the level of the medullary collecting duct, and probably are secondary effects of the medullary interstitial nephropathy.
authors.affiliation: Department of Paediatrics, Hospital Infantil de Cruces, Bilbao, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Rodríguez-Soriano
authors.forename: A
authors.initials: A
authors.lastname: Vallo
mesh_terms: D000141:Acidosis, Renal Tubular / Q000503:physiopathology* / Q000652:urine; D000641:Ammonia / Q000652:urine; D002118:Calcium / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005919:Glomerular Filtration Rate; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D008275:Magnesium Deficiency / Q000652:urine*; D008297:Male; D009397:Nephrocalcinosis / Q000473:pathology; D013577:Syndrome
chemical_list: D000641:Ammonia; D002118:Calcium