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Familial Juvenile Hyperuricemic Nephropathy Type 1



  • There is marked interfamilial and intrafamilial variability that was also seen in the present family. Hyperuricemia is present in 83.3% of the cases and gout in 45% of mutation - positive cases.[indianjnephrol.org]
  • Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic “disturbance” to the systemic appearance[books.google.com]
  • Case presentation Case report The proband is an affected female who was first evaluated at the age of 24, when she presented with a gout attack and hyperuricemia. At age 27 she was told having renal failure.[link.springer.com]
  • Conclusions: The present study reported a novel mutation in exon 9 of UMOD in the Chinese Han population, within the GPI anchor signal segment of uromodulin.[karger.com]
Severe Pain
  • About two o'clock in the morning he is awakened by a severe pain in the great toe; more rarely in the heel, ankle, or instep. This pain is like that of a dislocation, and yet the parts feel as if cold water were poured over them.[books.google.com]
  • pain and swelling in the big toe or another joint such as the knee.[en.wikipedia.org]
Weight Loss
  • Page 20 - Beneficial effects of weight loss associated with moderate calorie/carbohydrate restriction, and increased proportional intake of protein and unsaturated fat on serum urate and lipoprotein levels in gout: a pilot study. ‎[books.google.com]
  • loss Seizures Confusion, decreased alertness, coma There is no cure for ADTKD.[medlineplus.gov]
  • Then follow chills and shivers, and a little fever. The pain, which was at first moderate, becomes more intense. With its intensity the chills and shivers increase. ‎[books.google.com]
  • However, simple kidney cysts may: Cause pain in your side, back, or upper abdomen if they enlarge and press on other organs Bleed Become infected, causing fever, chills, or other signs of infection Impair kidney function (rare) Simple kidney cysts have[webmd.com]
Hodgkin Lymphoma
  • Autologous bone marrow transplantation as compared with salvage chemotherapy in relapses of chemotherapy-sensitive non-Hodgkin's lymphoma [see comments]. ‎ Page 19 - In: Resnick D, Niwayama G, eds. Diagnosis of bone and joint disorders. 2nd ed. ‎[books.google.com]
  • Then follow chills and shivers, and a little fever. The pain, which was at first moderate, becomes more intense. With its intensity the chills and shivers increase. ‎[books.google.com]
Kidney Failure
  • As the disease progresses, kidney failure develops. Treatment may involve taking medicines and diet changes, limiting foods containing phosphorus and potassium. You may need dialysis and a kidney transplant.[medlineplus.gov]
  • Joshua Schwimmer A List of Kidney Diseases Abderhalden–Kaufmann–Lignac syndrome (Nephropathic Cystinosis) Abdominal Compartment Syndrome Acetaminophen-induced Nephrotoxicity Acute Kidney Failure/Acute Kidney Injury Acute Lobar Nephronia Acute Phosphate[kidney.nyc]
  • They are not the same thing as polycystic kidney disease, which is a progressive disease that can lead to kidney failure. Simple kidney cysts most often do not cause harm.[webmd.com]
  • Dominant mutations in the REN gene, which encodes renin, have recently been described in families with hyperuricemia, anemia, progressive kidney failure, and progressive interstitial fibrosis. [11] These patients may also be considered to fall under the[emedicine.medscape.com]
Renal Impairment
  • Mild renal impairment is usually asymptomatic in the initial phases and, as such, this mutation is likely to be underdiagnosed.[bjd-abcd.com]
  • Renal impairment usually appears between 15 and 40 years of age, leading to end-stage renal disease (ESRD) within 10 to 20 years [ 1 ].[link.springer.com]


  • The ability to identify a disease-causing mutation also allows diagnostic workup for living-related transplantation to be more precise.[oapublishinglondon.com]


  • Take advantage of expanded coverage of small molecule treatment, biologics, biomarkers, epigenetics, biosimilars, and cell-based therapies.[books.google.com]
  • However, there is no correlation between the presence of hyperuricemia or gout and development of ESRD. [9] Definitive treatment is renal transplantation.[indianjnephrol.org]
  • Simple Kidney Cyst Treatment If your cyst does not cause symptoms or complications, you do not need treatment. Your doctor may simply watch your cysts to make sure they don't cause any problems.[webmd.com]
  • ADSL no effective treatment has been identified. AICAR-TF/IMP-CH no effective treatment has been identified. Adenylate kinase treatment is supportive care of the hemolytic anemia resulting in this condition with transfusion.[clinicaladvisor.com]


  • Early detection of the disease can significantly improve prognosis.[centogene.com]
  • Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011; 80 :768-76. 9. Bingham C, Ellard S, van't Hoff WG, et al.[bjd-abcd.com]


  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Ongoing controversies regarding etiology, diagnosis, treatment The main controversy related to purine metabolism relates to gene therapy.[clinicaladvisor.com]


  • […] nephropathy with gout - UMOD-associated FJHN - UMOD-associated familial juvenile hyperuricemic nephropathy Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare renal disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. Eur J Hum Genet 1999; 7: 205-11. 18. Hildebrandt F, Singh-Sawhney I, Schnieders B, et al.[sjkdt.org]
Sex distribution
Age distribution


  • Moreover, the recent development of a recombinant form of urate oxidase transforming uric acid into allantoin (Rasburicase) has caused new interest in the pathophysiology of hyperuricemia and the potential applications of this new drug.[books.google.com]
  • Program structure Global objectives: In this consortium, we have mobilized a critical mass of expertise to investigate, on a Europe-wide scale, the natural history and pathophysiology of a series of rare inherited diseases affecting the kidney.[eunefron.org]
  • Advancements in our understanding of the human genome, and specifically the different variants of MODY and their underlying pathophysiology, can lead to greater recognition and management of conditions such as type 5 monogenic diabetes type or RCAD.[bjd-abcd.com]


  • It has been suggested that one of THP major role is of an urinary anti-adherence factor preventing type 1 fimbriated E coli from binding to the urothelial receptors [ 13 ].[link.springer.com]
  • From the apical membrane, it is secreted into the tubular lumen where it polymerizes into a water impermeable gel-like structure that modulates salt transport, urine concentration, and urate metabolism. [3] UMOD prevents interstitial cystitis, urinary[indianjnephrol.org]
  • The project uses and develops multiple models with the aim to develop preventive, diagnostic and therapeutic interventions.[eunefron.org]
  • It may not be preventable. ADTKD; Medullary cystic kidney disease; Renin associated kidney disease; Familial juvenile hyperuricemic nephropathy; Uromodulin associated kidney disease Bleyer AJ, Kidd K, Živná M, Kmoch S.[medlineplus.gov]
  • With early diagnosis and treatment, clinical manifestations of gout can be prevented or delayed; however, there is only anecdotal evidence that allopurinol may slow the rate of progression to ESRD[ 41 ]. References[uscapknowledgehub.org]

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