Create issue ticket

112 Possible Causes for Familial Nephropathy with Hyperuricemia

  • Hyperuricemia

    Similar familial nephropathy has been reported in the literature, generally in association with gout or asymptomatic hyperuricemia.[ncbi.nlm.nih.gov] Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disorder characterized by hyperuricemia with renal uric acid under-excretion and CKD.[ncbi.nlm.nih.gov]

  • Nivelon-Nivelon-Mabille Syndrome

    […] adult spastic quadriparesis Nephropathy deafness hyperparathyroidism Nephropathy familial with hyperuricemia Nephropathy, familial with gout Nephrosis deafness urinary tract[mindmappedia.com] […] adult spastic quadriparesis Nephropathy deafness hyperparathyroidism Nephropathy familial with hyperuricemia Nephropathy, familial with gout Nephrosclerosis Nephrosis deafness[bionity.com] Nemaline Myopathy, Amish Type Neonatal transient jaundice Nephroblastomatosis, fetal ascites, macrosomia and Wilm's tumor Nephrogenic diabetes insipidus Nephronophthisis familial[mindmappedia.com]

  • Familial Interstitial Nephritis

    Similar familial nephropathy has been reported in the literature, generally in association with gout or asymptomatic hyperuricemia.[karger.com] The family history of renal failure and hyperuricemia, the renal biopsy findings, and the absence of renal cysts supported familial juvenile hyperuricemic nephropathy (FJHN[uscapknowledgehub.org] The latter form is an allelic variant of FJHN type 1 (Familial juvenile hyperuricemic nephropathy type 1 - see this term), which is also due to mutations in UMOD .[orpha.net]

  • Gout

    We report 2 cases of familial juvenile hyperuricemic nephropathy, a rare autosomal dominant disorder characterized by uromodulin gene mutations leading to hyperuricemia secondary[ncbi.nlm.nih.gov]

  • Chronic Kidney Disease

    Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disorder characterized by hyperuricemia with renal uric acid under-excretion and CKD.[ncbi.nlm.nih.gov]

  • Medullary Cystic Kidney Disease

    Independent confirmation of the locations of MCKD1 and MCKD2 in other MCKD families, with or without hyperuricemia and gout, has been reported.[ncbi.nlm.nih.gov] Abstract Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder heralded by hyperuricemia during childhood; it is characterized by chronic interstitial[ncbi.nlm.nih.gov] Familial nephropathy associated with hyperuricemia in spain: our experience with 3 families harbouring a UMOD mutation.[ncbi.nlm.nih.gov]

  • Urate Kidney Stone

    Children with familial juvenile gouty nephropathy are in this group. This condition is inherited in an autosomal dominant fashion.[emedicine.medscape.com] Group 4: These children have hyperuricemia and hypouricosuria secondary to decreased renal excretion.[emedicine.medscape.com]

  • Cystic Kidney

    The latter form is an allelic variant of FJHN type 1 (Familial juvenile hyperuricemic nephropathy type 1 - see this term), which is also due to mutations in UMOD.[orpha.net] The latter form is an allelic variant of FJHN type 1 (Familial juvenile hyperuricemic nephropathy type 1 - see this term), which is also due to mutations in UMOD .[orpha.net] UMOD, encoding uromodulin or Tamm-Horsfall protein, has been identified as responsible of the disease) with earlier end-stage renal disease (around 32 years) often with hyperuricemia[orpha.net]

  • Autosomal Dominant Progressive Nephropathy with Hypertension

    Patient had chronic polyarticular tophaceous gout with nephropathy with hypertension with familial AD hyperuricemia of under excretory type.[japi.org] […] juvenile hyperuricemic nephropathy (FJHN) because of the frequent association with hyperuricemia.[emedicine.medscape.com] UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. J Clin Endocrinol Metab 2003;88:1398-1401.[japi.org]

  • Chronic Gouty Nephropathy

    Genetic Factors Associated With Gout and Hyperuricemia ... of familial juvenile hyperuricemic nephropathy/medullary cystic kidney disease, autosomal dominant ...[doctor-beller.dipmap.com] […] juvenile hyperuricemic febuxostat FJHN formaon fraconal excreon fructose genec gout gouty nephropathy hypertension hyperuricemia increased uric acid inflammaon intake intersal[books.google.com] Uric acid nephrolithiasis Idiopathic: sporadic Familial (primary hyperuricemia) Congenital gout, HTN, and interstitial nephropathy (autosomal dominant; FJHN1, MCKD2, glomerulocystic[unboundmedicine.com]

Further symptoms