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Fanconi Renotubular Syndrome Type 3


Presentation

  • […] feature. [3] Rickets as the presenting feature of Wilson's disease has been reported very rarely. [4] We present a child of 13 years presenting with rickets refractory to replacement of vitamin D due to Fanconi's syndrome secondary to Wilson's disease[ijem.in]
  • Renal tubular acidosis presenting as respiratory paralysis. Neurol India 2010: 58: 106-108. 7. Sanyal D, Bhattacharjee S. Thyrotoxic hypokalemic periodic paralysis as the presenting symptom of silent thyroiditis.[neurologyindia.com]
  • It was observed that all patients presented polyuria, polydipsia and intestinal constipation. Of the five patients, four (1,2,3 and 4) presented unilateral cryptorchidy that was corrected surgically.[bjn.org.br]
  • We present a case of a young female who presented with proximal RTA and Fanconi syndrome and excellently responded to Vitamin D replacement.[sjkdt.org]
Palpable Spleen
  • No palpable spleen or shifting dullness was noted.[ijem.in]
Short Stature
  • Affiliated tissues include kidney and bone , and related phenotypes are short stature and proteinuria[malacards.org]
  • Thus a diagnosis of short stature and refractory rickets due to Fanconi's syndrome secondary to Wilson's disease was made.[ijem.in]
  • ; RFS Classification genetic, renal Phenotypes Autosomal dominant inheritance ; Glycosuria ; Hypokalemia ; Hypophosphatemia ; Lacticaciduria ; Muscle weakness ; Osteomalacia ; Proteinuria ; Renal insufficiency ; Renal tubular dysfunction ; Rickets ; Short[mousephenotype.org]
  • Other causes of failure to thrive and short stature . Investigations The diagnosis is based on excessive loss of substances in the urine (eg, amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations.[patient.info]
Raynaud Phenomenon
  • There was no history of joint pain, skin rash, photosensitivity, oral ulcers, dryness of mouth or eyes, Raynaud's phenomenon, sweating, palpitation, weight loss, diarrhea, irritability, pedal swelling, or fever.[sjkdt.org]
Mild Clinical Course
  • Phenotypic variability in FBS has been reported and includes atypical phenotype, unusually mild clinical course, severe phenotype and also variable clinical severity in patients with identical mutations [ 2 – 8 ].[bmcresnotes.biomedcentral.com]
Palpitations
  • There was no history of joint pain, skin rash, photosensitivity, oral ulcers, dryness of mouth or eyes, Raynaud's phenomenon, sweating, palpitation, weight loss, diarrhea, irritability, pedal swelling, or fever.[sjkdt.org]
Kayser-Fleischer Ring
  • To screen for causes of Fanconi's syndrome, a slit-lamp examination was done and it revealed the presence of Kayser-Fleischer ring More Detailss which prompted an evaluation for Wilson's disease [Figure 3].[ijem.in]
Skin Lesion
  • Skin and mucous membranes were dry, he was afebrile, with no skin lesions, and no other physical findings. He had a high urine output (3.5 L/day), which was macroscopically normal.[revistanefrologia.com]
Long Arm
  • We were able to map the locus for autosomal dominant familial renal Fanconi syndrome to the long arm of human chromosome 15 by genotyping a large central Wisconsin pedigree by performing a whole genome scan with 367 highly polymorphic simple sequence[nature.com]
Normal Stature
  • However, a distinctive feature is the wide variability of clinical course showing normal stature and normal physical exam at age 6 years in patient 1 and a rapidly progressive course characterized by weight loss, massive polyuria, metabolic acidosis and[bmcresnotes.biomedcentral.com]
Dysarthria
  • A detailed examination of the central nervous system revealed spastic dysarthria. Ultrasonography of the abdomen showed a normal-sized liver with coarse architecture; portal vein, spleen, and kidneys were normal.[ijem.in]

Workup

Glycosuria
  • Our patients (5 women and 2 men) developed renal tubular dysfunction, with hypophosphatemia, normoglycemic glycosuria, proteinuria, and decrease of creatinine clearance.[journals.lww.com]
  • […] type 2 (proximal), hypophosphataemic rickets (children) or osteomalacia (adults), and renal glycosuria. [ 2 , 3 ] Epidemiology The incidence of each cause of Fanconi's syndrome is different, although almost all of them are rather rare.[patient.info]
  • Glycosuria Glycosuria secondary to proximal tubule dysfunction is another of the cardinal features of Fanconi syndrome and results from impaired tubular reabsorption of glucose. It is often one of the first diagnostic clues.[abdominalkey.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.[malacards.org]
Fasting Hypoglycemia
  • We documented fasting hypoglycemia (serum Glucose 41 mg/dl a ter 4 hours of sleep). ABG analysis revealed compensated metabolic acidosis (pH 7.4, HCO3 16.0).Serum sodium and potassium were normal.[omicsonline.org]
  • Although FBS is characterized by carbohydrate abnormalities including posprandial hyperglycemia and fasting hypoglycemia, our patients did not show significant hyperglycemia at presentation or during follow up.[bmcresnotes.biomedcentral.com]
Hypertriglyceridemia
  • A 49-year-old man with a past medical history of alcoholic pancreatitis and liver disease, hypertriglyceridemia, and hypertension (HTN) treated with gemfibrozil and valsartan for over one year.[revistanefrologia.com]

Treatment

  • […] consulted for: Blood In Urine (Hematuria) Treatment, H.I.V, Blood in Urine Dr.[lybrate.com]
  • Treatment of isotonic saline with electrolyte replacement was maintained. However, the electrolyte imbalance was not corrected, and the metabolic acidosis was aggravated by this treatment.[kjim.org]
  • Treatment options vary depending on nature of the renal tubular disorder.[amboss.com]
  • Read causes, treatment of walking pneumonia in adults. Wilson diseaseIn adults, Fanconi syndrome can be caused by a range of things that damage the kidneys, such as.[drummed-commission.ga]

Prognosis

  • Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE .[dovemed.com]
  • Prognosis Prognosis depends on the cause of the syndrome and the severity of renal and extrarenal manifestations. Prevention Avoiding exposure to potential toxins - eg, outdated tetracyclines and aminoglycosides.[patient.info]
  • Prognosis Careful balancing of body chemicals will usually produce good results. If there is an underlying disease responsible for the kidney malfunction, it may be the determining factor in the prognosis.[the-medical-dictionary.com]
  • The prognosis depends on the underlying disease. Call your health care provider if you have dehydration or muscle weakness. De Toni-Fanconi-Debré syndrome Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule.[medlineplus.gov]

Etiology

  • References: [1] [2] [3] [4] Type 1 renal tubular acidosis Pathophysiology : inability of the intercalated cells of the distal tubu le to secrete H Etiology Sporadic type 1 RTA ( idiopathic ) Familial type 1 RTA (inherited genetic defects) Autosomal dominant[amboss.com]
  • Clinical definition a type of renal tubular acidosis (type 2) in the proximal convoluted tubules (PCT) Epidemiology incidence hereditary forms occur in 1:40,000 demographics hereditary forms affect Caucasian children valproic acid-induced affects children Etiology[step2.medbullets.com]
  • Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrol Dial Transplant. 2012;27(12):4273-87. Long WS, Seashore MR, Siegel NJ, Bia MJ.[ijpediatrics.com]
  • Proximal renal tubular acidosis: A not so rare disorder of multiple etiologies. Nephrol Dial Transplant 2012;27:4273-87. [ PUBMED ] 6. Fukumoto Y, Tarui S, Tsukiyama K, et al.[sjkdt.org]

Epidemiology

  • References: [6] [7] Bartter syndrome Definition : : a group of rare genetic disorders ; ( autosomal recessive or dominant ) that affect chloride reabsorption in the ascending limb of the loop of Henle Epidemiology Prevalence : 1/1,000,000 Etiology Type[amboss.com]
  • 1 ] Fanconi's syndrome may be inherited or acquired and leads to aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis (RTA) type 2 (proximal), hypophosphataemic rickets (children) or osteomalacia (adults), and renal glycosuria. [ 2 , 3 ] Epidemiology[patient.info]
  • Introduction Clinical definition a type of renal tubular acidosis (type 2) in the proximal convoluted tubules (PCT) Epidemiology incidence hereditary forms occur in 1:40,000 demographics hereditary forms affect Caucasian children valproic acid-induced[step2.medbullets.com]
  • Tubulointerstitial nephritis and uveitis (TINU) syndrome: a systematic review of its epidemiology. demographics and risk factors Orphanet J Rare Dis. 2017;12(1):128. .[bmcnephrol.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Through knowledge about the pathophysiology of this disorder new drugs may be developed to treat renal tubular transport disorders.[nature.com]
  • References: [1] [2] [3] [4] Type 1 renal tubular acidosis Pathophysiology : inability of the intercalated cells of the distal tubu le to secrete H Etiology Sporadic type 1 RTA ( idiopathic ) Familial type 1 RTA (inherited genetic defects) Autosomal dominant[amboss.com]
  • With regard to the pathophysiology, the renal proximal tubule is the site of action.[cjasn.asnjournals.org]
  • It provides complete, authoritative information on the biology of the newborn and the pathophysiology and management of diseases during the neonatal period.[books.google.es]

Prevention

  • Currently, there are no methods available to prevent the inherited form of this abnormality It is a difficult and complicated condition that needs urgent and active treatment administration.[dovemed.com]
  • Dehydration due to polyuria: prevent by ensuring adequate fluid intake; episodes of dehydration require either oral or intravenous fluid replacement.[patient.info]
  • Proper patient positioning is needed to prevent injury to rickety bones.[ijaweb.org]
  • Prevention Fanconi's syndrome caused secondarily by the genetic diseases galactosemia, glycogen storage disease, hereditary fructose intolerance, and tyrosinemia is prevented by appropriate dietary restrictions to treat the genetic disease, starting in[medical-dictionary.thefreedictionary.com]

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