Hereditary hypophosphatemic rickets with hypercalciuria: case report.
We report a case of a male aged 50 years who consulted for renal disease recurrent lithiasis and nephrocalcinosis. The clinical examination showed external signs of rickets/osteomalacia and biochemical data as well as a severe loss of renal phosphate with hypophosphatemia, normal 25 OH vitamin D, high 1,25 OH vitamin D and hypercalciuria. Parathyroid hormone was low and renal ultrasound confirmed the existence of severe bilateral medullary nephrocalcinosis. They also found incipient chronic renal failure and incomplete renal tubular acidosis, both secondary to nephrocalcinosis and unrelated to the underlying disease. The molecular study found a change in homozygosity in intron 5 of gene SLC34A3 (NM_080877.2:c[ 448 +5G&gt;A] + [ 448 +5G&gt;A] ). His three children were carriers of the same variant in heterozygosis and although they were clinically asymptomatic two of them had hypercalciuria. All these data suggest that the patient had hereditary hypophosphataemic rickets with hypercalciuria (HHRH) secondary to an alteration in the sodium dependent phosphate cotransporter located in proximal tubule (NaPi-IIc). The HHRH is transmitted by autosomal recessive inheritance and is an extremely rare form of hypophosphatemic rickets. The diagnosis and treatment are essential to prevent bone sequelae of rickets and nephrocalcinosis. A correct differential diagnosis with other forms of hypophosphatemic rickets has implications on the treatment, as the management based only on phosphorus supplementation usually corrects all clinical and biochemical abnormalities, except for the loss of phosphorus in the urine. The exogenous supply of calcitriol, as advised in other hypophosphatemic rickets, may induce renal calcium deposits and nephrocalcinosis and worsens the prognosis.
Sección de Nefrología Pediátrica, Servicio de Pediatría, Hospital Universitario Donostia, P.º Beguiristain s/n. 20014 San Sebastián-Donostia, Guipúzcoa, Spain. ramon.aresestrapote@osakidetza.ner
Ramón
R
Areses-Trapote
Juan A
JA
López-García
Mercedes
M
Ubetagoyena-Arrieta
Antxon
A
Eizaguirre
Raquel
R
Sáez-Villaverde
D015652:25-Hydroxyvitamin D 2 / Q000097:blood; D000141:Acidosis, Renal Tubular / Q000209:etiology; D002117:Calcitriol / Q000097:blood; D002118:Calcium / Q000032:analysis; D002462:Cell Membrane / Q000378:metabolism; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics / Q000652:urine*; D005838:Genotype; D006801:Humans; D053565:Hypercalciuria / Q000209:etiology*; D007438:Introns / Q000235:genetics; D007668:Kidney / Q000737:chemistry / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000209:etiology; D007687:Kidney Tubules, Proximal / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009397:Nephrocalcinosis / Q000209:etiology*; D053040:Nephrolithiasis / Q000209:etiology*; D010281:Parathyroid Hormone / Q000097:blood; D010758:Phosphorus / Q000378:metabolism; D011379:Prognosis; D050615:Sodium-Phosphate Cotransporter Proteins, Type IIc / Q000235:genetics*
D010281:Parathyroid Hormone; C493562:SLC34A3 protein, human; D050615:Sodium-Phosphate Cotransporter Proteins, Type IIc; D015652:25-Hydroxyvitamin D 2; D010758:Phosphorus; D002117:Calcitriol; D002118:Calcium