Presentation
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]
The patient presents in infancy with failure to thrive, hepatosplenomegaly, and rickets. Neonatal presentation with hyperglycemia and polyuria has been reported. [emedicine.medscape.com]
In summary we presented a case of Fanconi Bickel syndrome, an 8 month old male child with previous 2 sib deaths presented to us with progressively increasing abdominal distension and rickets. [omicsonline.org]
Entire Body System
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Short Stature
Affiliated tissues include kidney and bone, and related phenotypes are short stature and proteinuria [malacards.org]
Phenotypes Autosomal recessive inheritance ; Elevated alkaline phosphatase of bone origin ; Generalized aminoaciduria ; Glycosuria ; Hypercalciuria ; Hypophosphatemia ; Muscle weakness ; Osteopenia ; Proximal tubulopathy ; Renal insufficiency ; Rickets ; Short [mousephenotype.org]
Common birth defects seen with Fanconi anemia are short stature, thumb and arms abnormality (missing, misshapen or extra thumb, incompletely developed or missing forearm bone). [pediatriconcall.com]
Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia. [medical-dictionary.thefreedictionary.com]
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]
Musculoskeletal
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Myopathy
Mitochondrial cytopathies include a group of diseases characterized by myopathy, ataxia, seizures, and various other manifestations, including the Fanconi syndrome, determined by the specific tissue or tissues affected. [emedicine.medscape.com]
[…] determination of urinary beta2-microglobulin, Br J Dermatol, 2011, vol. 164 (pg. 648 - 51 ) 22 Salicylate-induced proximal tubular dysfunction, Am J Kidney Dis, 2007, vol. 50 (pg. 463 - 7 ) 23 Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy [academic.oup.com]
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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]
Workup
Duggan all participated in the care of this patient, the diagnostic workup, data acquisition and interpretation, and article preparation. Copyright 2016 Wolters Kluwer Health, Inc. All rights reserved. [journals.lww.com]
Urine
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Glycosuria
[…] 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]
Proximal tubular dysfunction, resembling adult Fanconi's syndrome, was suggested by an increased urinary loss of phosphate and urate and glycosuria. [jamanetwork.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]
On extensive investigation we documented proximal renal tubular dysfunction in the form of glycosuria, phosphaturia, proteinuria and bicorbonaturia. Liver biopsy also revealed hepatic glycogen accumulation. [omicsonline.org]
It characterized clinically by phosphaturia, glycosuria, and aminoaciduria. Symptoms Hyperphosphaturia Renal phosphate wasting is observed along with other symptoms of proximal tubular damage.. [moldiag.com]
Serum
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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]
Treatment
B.K.Kidney & GI Center Urologist - Specializes in Treatment of Fanconi Renotubular Syndrome Jaykar Smruti Building, Aarey Road, Goregaon West, Mumbai Goregaon Seven Hills Hospital Urologist - Specializes in Treatment of Fanconi Renotubular Syndrome Marol [lybrate.com]
Treatment options vary depending on nature of the renal tubular disorder. [amboss.com]
Most of the time, treatment for RTA is effective. Kids whose RTA is caused by a genetic defect may need treatment for the rest of their lives. The good news is that sticking with their treatments lets kids remain healthy. Date reviewed: March 2014 [kidshealth.org]
Links: aetiology clinical features of Fanconi syndrome investigations treatment Fanconi's anaemia General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical condition [gpnotebook.co.uk]
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]
Prognosis
The prognosis is based on the specific condition and symptoms of each individual. [dovemed.com]
Prognosis of PRTA Although the underlying cause of proximal renal tubular acidosis may go away by itself, the effects and complications can be permanent or life-threatening. Treatment is usually successful. [medvin2u.net]
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]
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 Etiology hereditary conditions [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]
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]
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 Etiology hereditary conditions [medbullets.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]
We conducted the present study to survey the epidemiological characteristics of primary SS in China. [docksci.com]
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]
Organized by disease, the new edition of this popular guide has been completely revised and updated to reflect the latest information on definition, current pathophysiology, significant pre-, intra-, and postoperative factors of the disease process, anesthetic [books.google.ro]
Effectively diagnosing and treating patients is a concern because of the limited information available regarding the pathophysiology of the disease. [uspharmacist.com]
The basic pathophysiologic abnormality is unknown but may involve a mitochondrial disturbance. Low levels of serum phosphate cause rickets, which is worsened by decreased proximal tubular conversion of vitamin D to its active form. [merckmanuals.com]
Prevention
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]
[…] possible preventive strategy, for example, probenecid, an inhibitor of organic anion transporters, has been used to prevent cidofovir-induced tubular toxicity in patients with CMV infection. 48 Overall, given that strategies to prevent or treat drug-induced [academic.oup.com]
Advising parents to prevent their children from exposure to lead and avoiding outdated antibiotics is an important part of child care. [uspharmacist.com]
Those with severe cardiac anomalies may not have a positive outcome Please find comprehensive information on Williams Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, [dovemed.com]