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12 Possible Causes for Proteinuria, 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] […] proximal tubules presenting decreased tubular reabsorption of phosphate (%TRP), increased fractional excretion of potassium (FEK) and uric acid (FEUA), low-molecular-weight proteinuria[ncbi.nlm.nih.gov]

  • Fanconi Renotubular Syndrome Type 3

    DOI: Proximal renal tubular acidosis with primary Fanconi syndrome Abstract Renal tubular acidosis (RTA) is associated with normal or near normal glomerular filtration rate[ijpediatrics.com] , birdlike, dysmorphic, micrognathia, mid-face hypoplasia – Neck (1%): Sprengel, Klippel-Fiel, short, low hairline, web – Spine (2%): Spina bifida, scoliosis, hemivertebrae[slideshare.net] In April 2002, laboratory tests showed proteinuria at 1.86 g per 24 hours, glycosuria at 8.2 mmol/L, and serum creatinine level at 349 μmol/L.[journals.lww.com]

  • 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] […] to antibiotics-Daily proteinuria Proteinuria over 200 mg/day Proteinuria of less than 200 mg/day normal kidney function normal urine sediment Neortostatičeskaâ Ortostatical[slideplayer.com]

  • Acrootoocular Syndrome

    […] coloboma syndrome Renal Dysplasia - Limb Defects Syndrome Renal Nutcracker Syndrome Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation restless[rgd.mcw.edu] Hand anomalies include short fingers, hypoplasia of thenar and hypothenar eminences and cutaneous syndactyly.[orpha.net] Proteinuria was observed in 20% and hypertension in 7% of patients. Chronic kidney disease was documented in 20% [ 64 ].[academic.oup.com]

  • Autosomal Dominant Mental Retardation Type 21

    Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation prune belly syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness[rgd.mcw.edu] The radial defects range from thenar eminence hypoplasia to radial absence.[oandplibrary.org] SUSCEPTIBILITY TO GENERALIZED IDIOPATHIC EPILEPSY, TYPE 9 Clcn5 (N237/24) DENT DISEASE TYPE 1 NEPHROLITHIASIS, X-LINKED RECESSIVE HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE PROTEINURIA[neuromab.ucdavis.edu]

  • Oculootoradial Syndrome

    recessive proximal renal tubular acidosis Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive Robinow syndrome Autosomal recessive Segawa syndrome Autosomal[csbg.cnb.csic.es] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 6/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov] 0008953 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Small thenar eminence 0001245 Showing of 31 Last updated: 5/1/2019 Making a diagnosis for a genetic or[rarediseases.info.nih.gov]

  • Lenz-Majewski Syndrome

    Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation prune belly syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness[rgd.mcw.edu] […] of the thenar and hypothenar eminences (Learman et al. 1981).[rrnursingschool.biz] […] pressure hydrocephalus Coxa valga Specific learning disability Tremor Renal insufficiency Short palm Neurological speech impairment Rigidity Long philtrum Abnormality of finger Proteinuria[mendelian.co]

  • Genee-Wiedemann Syndrome

    tubular acidosis with deafness; 267300; ATP6B1 Renal tubular acidosis, distal, AD; 179800; SLC4A1 Renal tubular acidosis, distal, AR; 611590; SLC4A1 Renal tubular acidosis[howlingpixel.com] Aplastic clavicle Astigmatism Small thenar eminence Limited wrist movement Limited interphalangeal movement Hypoplasia of deltoid muscle Pectoralis major hypoplasia Abnormality[mendelian.co] , distal, autosomal recessive; 602722; ATP6V0A4 Renal tubular acidosis, proximal, with ocular abnormalities; 604278; SLC4A4 Renal tubular dysgenesis; 267430; ACE Renal tubular[howlingpixel.com]

  • Nonsyndromic Renal Hypodysplasia Type 1

    Test Registry Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 604278 Genetic Test Registry Renal Tubular Dysgenesis RTD 267430 Genetic[ukgtn.nhs.uk] eminence Optic disc hypoplasia Respiratory distress Duane anomaly Ureteral atresia Aplasia of the vagina Abnormality of upper lip Crossed fused renal ectopia Hemifacial hypoplasia[mendelian.co] She has mild proteinuria (1 on dipstick) and is normotensive.[academic.oup.com]

  • Radial Ray Hypoplasia - Choanal Atresia Syndrome

    OMIM:267200 Renal Tubular Acidosis III OMIM:179830 Renal Tubular Acidosis, Proximal OMIM:604278 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation[informatics.jax.org] A sister of the proposita had hemifacial microsomia, cervical abnor- malities, and hypoplasia of the thenar eminence.[docslide.us] Proteinuria was observed in 20% and hypertension in 7% of patients. Chronic kidney disease was documented in 20% [ 64 ].[academic.oup.com]

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