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Hereditary Hypophosphatemic Rickets with Hypercalciuria



  • CLINICAL CASE We present the case of a 50 year-old man evaluated in the Urology Department of our hospital, presenting a recurrent renal calculus disease since the age of 36.[revistanefrologia.com]
  • Disclosures: None * Presenting Authors(s): Alyssa Chen, Yale School of Medicine[asbmr.org]
  • Three siblings, aged 12, 4 and 2 years, presented at a Gambian clinic with bone deformities. Radiographs of knees and wrists confirmed the presence of florid rickets.[ncbi.nlm.nih.gov]
  • Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis.[uncch.pure.elsevier.com]
Difficulty Walking
  • Phenotype Kidney stone, nephrocalcinosis, rickets/osteomalacia, growth retardation, frontal bossing, increased fractures, bone pain, hypotonia, muscle weakness, difficulty walking, and difficulty standing.[iofbonehealth.org]
  • A 54-year-old Vietnamese man, his unaffected two daughters and wife. We performed biochemical studies and sequenced the SLC34A3 gene using genomic DNA from peripheral blood mononuclear cells.[ncbi.nlm.nih.gov]
Normal Stature
  • The patient had normal stature; without rachitic or boney deformities or a history of fractures.[ncbi.nlm.nih.gov]
  • […] symbols: FLJ38680, NPTIIc ) Mouse Orthologs Slc34a3 (Withdrawn symbols: AI649385 ) Source ORPHA:157215 (names, synonyms, disease associated genes) , Orphanet (disease classes) , HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse[mousephenotype.org]
Flank Pain
  • At age 3 years and 5 months, he was brought to the emergency room with flank pain and hematuria, and was diagnosed with two kidney stones by non-contrast computerized tomography (CT) scan.[ncbi.nlm.nih.gov]


  • (See Etiology and Workup.) In XLH patients, the severe hypophosphatemia ( 2.5 mg/dL) is associated with elevated serum alkaline phosphatase.[emedicine.medscape.com]
  • As such, FGF 23 appears to be a novel marker in the workup of chronic kidney disease, tumour-induced osteomalacia, and rare genetic causes of rickets. HR is treated with oral phosphorus and calcitriol.[scielo.mec.pt]
Enlargement of the Liver
Alkaline Phosphatase Increased
  • When there is a deficiency of vitamin D, the amount of phosphorus and calcium in the blood decreases, the activity of alkaline phosphatase increases, the amount of citrates in the tissues, blood plasma, and urine decreases, and the amount of amino acids[encyclopedia2.thefreedictionary.com]


  • Management and treatment Treatment requires daily administration of phosphorus without calcitriol supplementation as this may increase 1,25(OH)2 vitamin D levels further leading to hyperabsorptive hypercalciuria.[orpha.net]
  • The diagnosis and treatment are essential to prevent bone sequelae of rickets and nephrocalcinosis.[ncbi.nlm.nih.gov]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • PTH levels were normal throughout the observation period, while 1,25(OH)(2) vitamin D levels remained elevated and may thus be helpful for assessing treatment efficacy and patient compliance in HHRH. Copyright 2012 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]


  • The exogenous supply of calcitriol, as advised in other hypophosphatemic rickets, may induce renal calcium deposits and nephrocalcinosis and worsens the prognosis.[ncbi.nlm.nih.gov]
  • The contribution of exogenous calcitriol as recommended in other cases of hypophosphatemic rickets, can favour renal deposits of calcium and the emergence of nephrocalcinosis, as well as worsen their prognosis.[revistanefrologia.com]
  • Prognosis of Hypoph0sphatemic Rickets Apart from the short stature of most affected adults, the prognosis for a normal lifespan and normal health is good. Abnormal dentine formation causes late dentition and spontaneous abscess formation.[boneandspine.com]


  • Etiology HHRH is caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Genetic counseling Transmission is autosomal recessive.[orpha.net]
  • (See Etiology and Treatment.)[emedicine.medscape.com]
  • Orally administered inorganic phosphate is predicted to improve symptoms in these patients, hence screening for SLC34A3 mutations should be considered in patients with hypercalciuria of unknown etiology.[ncbi.nlm.nih.gov]
  • Clinical and biological characteristics of hypophosphatemia, as well as its management, depend on the specific etiology (2).[jcrpe.org]
  • FGF 23 could be also appropriated for the first screening step in determining the etiology of FGF 23 -related hypophosphataemic rickets.[scielo.mec.pt]


  • Summary Epidemiology HHRH has been described in several kindreds and in a few sporadic cases from Europe, North America and Japan.[orpha.net]
  • Schissel BL, Johnson BK (2011) Renal stones: evolving epidemiology and management. Pediatr Emerg Care 27:676–681 PubMed CrossRef Google Scholar 104.[link.springer.com]
Sex distribution
Age distribution


  • Thus, this family raises some issues on the transmission and pathophysiology of hereditary hypophosphatemic rickets with hypercalciuria.[ncbi.nlm.nih.gov]
  • Zelikovic Molecular pathophysiology of tubular transport disorders Pediatr Nephrol., 16 (2001), pp. 919-935 [Hamilton y Butt, 2000] K.L. Hamilton, A.G.[apcontinuada.com]
  • Metab. (2006) [ Pubmed ] Phosphate transport: Molecular basis, regulation and pathophysiology. Tenenhouse, H.S. J. Steroid Biochem. Mol. Biol. (2007) [ Pubmed ][wikigenes.org]
  • Cause and Pathophysiology X linked hypophosphatemic rickets In X linked hypophosphatemic rickets, a mutant gene known as PHEX results in the reduced breakdown of FGF 23.[boneandspine.com]


  • Treatment of rickets is largely preventive, i.e., by early recognition and by including adequate amounts of vitamin D and calcium in the diet.[encyclopedia2.thefreedictionary.com]
  • The diagnosis and treatment are essential to prevent bone sequelae of rickets and nephrocalcinosis.[ncbi.nlm.nih.gov]
  • The HHRH patients in kindred A were treated for up to 7years with oral phosphate, which led to reversal of hypophosphatemia, hypercalciuria, and prevention or healing of the mild bone abnormalities.[ncbi.nlm.nih.gov]
  • […] phosphate deficiency is unlikely to develop except under unusual circumstances, such as extreme starvation or as a consequence of administration of a class of therapeutic agents known as phosphate binders that bind phosphate in the intestinal lumen and prevent[ommbid.mhmedical.com]

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