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Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Nephrolithiasis osteoporosis Hypophosphatemic 2


Presentation

  • Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty.[books.google.com]
  • Studies suggest that it is present in approximately 80% of the cases11.[jbn.org.br]
  • Rickets and/or osteomalacia is the presenting feature. Mild forms may present with hypercalciuria and nephrolithiasis without bone disease.[boneandspine.com]
  • Urinary tract infection may present concurrently with a renal stone. Stones may be a complication of other anatomic abnormalities of the kidneys, including autosomal dominant polycystic kidney disease.[mhmedical.com]
  • ORPHA:244305 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Adult ICD-10: - OMIM: 612286 612287 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
Epilepsy
  • This streamlined new edition covers the latest on genetics, neurology, infectious disease, melamine poisoning, sexual identity and adolescent homosexuality, psychosis associated with epilepsy, and more.[books.google.com]
  • (CDLS2) [MIM: 300590 ] SMCHD1 A6NHR9 non-pleiotropic Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM: 158901 ] SMOC1 Q9H4F8 non-pleiotropic Ophthalmoacromelic syndrome (OAS) [MIM: 206920 ] SNIP1 Q8TAD8 non-pleiotropic Psychomotor retardation, epilepsy[sbg.bio.ic.ac.uk]
  • Burning mouth syndrome C3 glomerulonephritis CACH syndrome CACNA1A gene mutation Camurati-Engelmann disease Capillary malformation Capillary malformation - arteriovenous malformation Cat-scratch disease Cardiofaciocutaneous syndrome Celiac disease, epilepsy[sanfordresearch.org]
  • […] idiopathic generalized,susceptibility to,8,612899 SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 MYH9 Epstein syndrome,153650 GLA Fabry disease, 301500 GLA Fabry disease, cardiac variant, 301500 PTH1R Failure of tooth[gsdseq.ir]
Physician
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • The clinical approach • In short, symptoms alone rarely alert the physician to the possibility of hypophosphatemia. Recognizing that hypophosphatemia can complicate specific clinical conditions allows the physician to make this diagnosis.[slideshare.net]
Polydipsia
  • Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration.[slc.bioparadigms.org]
  • Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.[uniprot.org]
Osteoporosis
  • Diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis via text searches within MalaCards or GeneCards Suite gene sharing: MalaCards organs/tissues related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis:[malacards.org]
  • The main part of this publication describes in detail the disorders associated with hypocalcemia, hypercalcemia, rickets, phosphate metabolism, primary and secondary osteoporosis.[books.google.com]
  • Probably mediates 70-80% of the apical influx Disease: (OMIM: 182309 612286 613388 ) Defects in SLC34A1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) [MIM:612286].[slc.bioparadigms.org]
  • Homepage Rare diseases Search Search for a rare disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease definition Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized[orpha.net]
Renal Insufficiency
  • Some eventually develop renal insufficiency Cellular location: Membrane; Multi-pass membrane protein Tissue specificity: Kidney and lung Database cross-references UniProt: Q06495 NextBio: 25559 OMIM: 182309 612286 613388 Ensembl: ENST00000512593 GeneCard[slc.bioparadigms.org]
  • Certainly the handling of an acute Phos load can be impaired with co-existing renal insufficiency, which increases the risk of hyperphosphatemia.[clinicaladvisor.com]
  • Nephrocalcinosis and hyperparathyroidism are important complications and nephrocalcinosis may result in renal insufficiency.[boneandspine.com]
  • insufficiency o Vitamin D intake or abuse, or use of vitamin supplements Use physical exam primarily to look for signs of hypercalcemia and diseases that underlie or are associated with hyperparathyroidism. * Look for: o Arthritis suggestive of gout[enotes.tripod.com]
  • Some eventually develop renal insufficiency.[uniprot.org]
Polyuria
  • Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration.[slc.bioparadigms.org]
  • […] and conditions associated with hyperparathyroidism: * Ask about: Bone pain o Calcium disorder o Constipation o Nausea or Vomiting o Depression or other psychiatric disorders o Fatigue o Head and neck radiation exposure o Kidney stones o Osteoporosis o Polyuria[enotes.tripod.com]
  • Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.[uniprot.org]

Workup

Nephrolithiasis
  • Diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis via text searches within MalaCards or GeneCards Suite gene sharing: MalaCards organs/tissues related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis:[malacards.org]
  • Diagnostic Criteria and Clinical Characteristics Nephrolithiasis is derived from the Greek words nephros and lithos meaning kidney stone.[mhmedical.com]
  • Homepage Rare diseases Search Search for a rare disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis Disease definition Dominant hypophosphatemia with nephrolithiasis or osteoporosis is a rare, genetic, renal tubular disease characterized[orpha.net]
  • Methods: Retrospective study with 681 adult patients with nephrolithiasis.[jbn.org.br]
  • […] osteoporosis, hypophosphatemic, 1 SLC34A1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 SLC9A3R1 FGF23-induced hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets FGF23 Autosomal recessive hypophosphatemic rickets type 1 DMP1 Autosomal[moldiag.de]
Glycosuria
  • Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration.[slc.bioparadigms.org]
  • These patients have hypophosphatemia along with type II renal tubular acidosis, renal glycosuria, aminoaciduria, and hypouricemia, ie, the condition referred to as Fanconi syndrome.[slideshare.net]
  • Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency.[uniprot.org]

Treatment

  • Clinical Features of Rickets Image Credit: Medscape Treatment of Hypophosphatemic Rickets Standard treatment of hypophosphatemic rickets is the administration of calcitriol. Addition of phosphates has been found not to be beneficial.[boneandspine.com]
  • Treatment considerations are as follows: • The patient's serum phosphate level, calcium level, bone density, and growth should be monitored frequently to ensure adequacy of treatment. 43.[slideshare.net]
  • Treatment with antiresorptive agents may be indicated in patients with osteopenia or osteoporosis.[enotes.tripod.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • 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]
  • Prognosis • The prognosis for a treatable and usually transient cause of hypophosphatemia is excellent.[slideshare.net]

Etiology

  • Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin.[ijem.in]
  • If FEPO4 is 5%, renal wasting is present, implicating hyperparathyroidism or alternate etiologies of renal tubular defects.[clinicaladvisor.com]
  • Since the etiology of hypocitraturia is multifactorial and directly related to the consumption of animal protein, promoting acid overload, its incidence varies in the different studied regions36.[jbn.org.br]
  • Tertiary hyperparathyroidism has long been thought to be the etiology, but hypophosphatemia can occur in patients with low parathyroid hormone (PTH) levels and can persist after high PTH levels normalize.[slideshare.net]
  • The approach is different in patients with recurrent or persistent hyperparathyroidism because of the differences in etiologies and in surgical morbidity due to fibrosis as compared with unoperated patients.[enotes.tripod.com]

Epidemiology

  • Studies on the prevalence and epidemiology of urinary stone disease in men in Leeds. Br J Urol 1983;55:595-8. 17. Hughes P. Kidney stones epidemiology. Nephrol 2007;12:S26-30. 18. Pak CYC, Resnick MI.[jbn.org.br]
  • Studies of epidemiology and calcium metabolism. Scand. J. Urol. Nephrol. 41, 1–96 (1977). 10. Sutherland, J. W., Parks, J. H. & Coe, F. L. Recurrence after a single renal stone in a community practice. Miner.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • 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]
  • Hypocitraturia: pathophysiology and medical management. Rev Urol 2009;11:134-44. 35. Tefekli A, Esen T, Ziylan O, Erol B, Armagan A, Ander H et al.[jbn.org.br]
  • Cystinuria: recent advances in pathophysiology and genetics. Contrib. Nephrol. 122, 173–177 (1997). 125. Goodyer, P., Boutros, M. & Rozen, R. The molecular basis of cystinuria: an update. Exp. Nephrol. 8, 123–127 (2000). 126.[nature.com]

Prevention

  • How can disorders of phosphorus be prevented? Monitor for abnormal Phos levels in the context of conditions that present risk of derangement such as renal insufficiency, rhabdomyolysis, or use of amphotericin B.[clinicaladvisor.com]
  • Serum phosphate and calcium levels should be monitored every 6 hours to ensure maintenance of normal calcium levels and to prevent overcorrection of phosphate deficiency. 48.[slideshare.net]
  • Raloxifene (Evista) — Raloxifene, a selective estrogen receptor modulator is for the prevention and treatment of osteoporosis.[enotes.tripod.com]
  • Patients with anatomically abnormal kidney stones must undergo metabolic evaluation to identify risk factors, start the medical preventive therapy, and reduce the risk of relapse12.[jbn.org.br]
  • […] urolithiasis has yielded a number of promising candidate genes Urolithiasis is also a manifestation of rare, single-gene disorders, many of which present in childhood or adolescence Early diagnosis of monogenic causes of urolithiasis is necessary to prevent[nature.com]

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