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723 Possible Causes for Generalized Proximal Tubulopathy, Proximal Renal Tubular Acidosis, Thenar Eminence Hypoplasia

  • Acquired Fanconi Syndrome

    , low-molecular-weight proteinuria and proximal renal tubular acidosis.[orpha.net] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] English Proximal renal tubulopathy generally resolved or improved after tenofovir disoproxil discontinuation.[mymemory.translated.net]

  • Fanconi Renotubular Syndrome Type 2

    Proximal Renal Tubular Acidosis (Type II) Causes of Proximal Renal Tubular Acidosis When the body performs its normal functions, it produces acid.[medvin2u.net] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates.[genome.jp]

  • Fanconi Renotubular Syndrome

    These findings were suggestive of proximal renal tubular acidosis (Fanconi syndrome).[ncbi.nlm.nih.gov] Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates.[genome.jp] Both patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates.[doi.org]

    Missing: Thenar Eminence Hypoplasia
  • Oculocerebrorenal Syndrome

    Lowe's Syndrome - Renal Complications: Aminoaciduria Fanconi-type renal tubular dysfunction Phosphaturia Proteinuria Progressive renal failure Proximal renal tubular acidosis[medicalchemy-syndromes.blogspot.com] proximal tubulopathy, has been misapplied.[cjasn.asnjournals.org] Kidneys : Renal tubular dysfunction similar to Fanconi syndrome which include proximal renal tubular acidosis, proteinuria, phosphaturia, renal rickets.[genetics4medics.com]

    Missing: Thenar Eminence Hypoplasia
  • Acidosis

    […] include: Kidney disease (distal renal tubular acidosis and proximal renal tubular acidosis) Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol Severe[nlm.nih.gov] Kidney disease ( distal renal tubular acidosis and proximal renal tubular acidosis ). Poisoning by aspirin, ethylene glycol (found in antifreeze), or methanol.[medlineplus.gov] Exercising intensely Liver failure Medicines, such as salicylates Prolonged lack of oxygen from shock, heart failure, or severe anemia Seizures Other causes of metabolic acidosis[nlm.nih.gov]

    Missing: Generalized Proximal Tubulopathy Thenar Eminence Hypoplasia
  • Sjögren Syndrome

    Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular[ncbi.nlm.nih.gov] acidosis and hypophosphatemia.[ncbi.nlm.nih.gov] Sjögren's syndrome can also be associated with renal involvement.[ncbi.nlm.nih.gov]

    Missing: Generalized Proximal Tubulopathy Thenar Eminence Hypoplasia
  • Multiple Myeloma

    Monoclonal gammopathy of undetermined significance (MGUS) is one of the most common premalignant disorders. IgG and IgA MGUS are precursor conditions of multiple myeloma (MM), whereas light-chain MGUS is a precursor condition of light-chain MM. Smoldering MM (SMM) is a precursor condition with higher tumor burden[…][ncbi.nlm.nih.gov]

    Missing: Generalized Proximal Tubulopathy Thenar Eminence Hypoplasia
  • Cystinosis

    A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria[ncbi.nlm.nih.gov] The first symptoms of juvenile cystinosis ( 5% of patients), typically appear around 6-8 years of age with a milder form of proximal tubulopathy and/or proteinuria with nephrotic[orpha.net] Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.[ncbi.nlm.nih.gov]

    Missing: Thenar Eminence Hypoplasia
  • Amyloidosis

    Systemic light chain amyloidosis (AL) is a life-threatening disease caused by aggregation and deposition of monoclonal immunoglobulin light chains (LC) in target organs. Severity of heart involvement is the most important factor determining prognosis. Here, we report the 4.0 Å resolution cryo-electron microscopy map[…][ncbi.nlm.nih.gov]

    Missing: Generalized Proximal Tubulopathy Thenar Eminence Hypoplasia
  • Systemic Amyloidosis

    Clin Rheumatol. 2016 Feb;35(2):535-9. doi: 10.1007/s10067-014-2782-0. Epub 2014 Sep 18. Author information 1 Service de Rhumatologie/DAL, CHUV, Av. Pierre Decker 4, 1011, Lausanne, Switzerland. 2 Service de Neurologie/DNC, CHUV, Rue du Bugnon 46, 1011, Lausanne, Switzerland. 3 Service de Pathologie Clinique, Hôpitaux[…][ncbi.nlm.nih.gov]

    Missing: Generalized Proximal Tubulopathy Thenar Eminence Hypoplasia