scholarly journals Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings

2019 ◽  
Vol 5 (2) ◽  
pp. 20180001 ◽  
Author(s):  
Sana Shaikh ◽  
Asma Qureshi ◽  
Syed Mohammad faiq
Keyword(s):  
Growth Failure ◽  
Autosomal Recessive Inheritance ◽  
Abdominal Distension ◽  
Tubular Damage ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Appropriate Treatment ◽  
Fumarylacetoacetate Hydrolase ◽  
Renal Tubular ◽  
Hereditary Tyrosinemia

Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular damage, and neurological manifestation resembling porphyrias. The complications that can develop without appropriate treatment include renal tubular dysfunction, growth failure, rickets, neurological crises, hepatomegaly, and possible hepatocellular carcinoma. We describe a case of 18-month-old child who presents with fever and gradually progressive abdominal distension. Laboratory and radiological investigations were done that lead to the diagnosis of this rare entity.

scholarly journals 5-Azacytidine and renal tubular dysfunction

Blood ◽  
1981 ◽  
Vol 57 (1) ◽  
pp. 182-185 ◽  
Author(s):  
BA Peterson ◽  
AJ Collins ◽  
NJ Vogelzang ◽  
CD Bloomfield
Keyword(s):  
Renal Toxicity ◽  
Tubular Damage ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Normal Range ◽  
Acid Base ◽  
Salt Wasting ◽  
Renal Tubular ◽  
Renal Abnormalities ◽  
Electrolyte Abnormalities

Abstract During initial trials of 5-azacytidine in adults with advanced acute leukemia, we unexpectedly observed acid-base, fluid, and electrolyte abnormalities that contributed directly to the deaths of two early patients. To evaluate this toxicity further, we studied 22 patients who received a total of 33 courses of combination chemotherapy that included 5-azacytidine. During 29 courses (88%) of treatment, polyuria, glucosuria, and/or transient changes in the serum concentrations of bicarbonate or phosphorus were detected. Spontaneous polyuria with demonstrable salt wasting and orthostatic hypotension occurred during seven courses (21%) of treatment. Inappropriate glucosuria was observed in nine courses (27%). In 24 courses (73%) the serum bicarbonate fell below the normal range. The urine became alkaline during 12 of these instances; the anion gap was not increased during the acidosis. Hypophosphatemia with serum phosphorus concentrations as low as 0.3 mg/dl occurred in 21 of 32 evaluable courses (66%). In the three patients studied the tubular reabsorption of phosphorus was 10%-18%. The renal abnormalities that were observed suggest both proximal and distal tubular damage from 5-azacytidine. Patients receiving 5- azacytidine should be monitored closely for manifestations of renal toxicity.

Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1

2014 ◽  
Vol 113 (3) ◽  
pp. 188-193 ◽  
Author(s):  
A. Maiorana ◽  
M. Malamisura ◽  
F. Emma ◽  
S. Boenzi ◽  
V.M. Di Ciommo ◽  
...  
Keyword(s):  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Early Effect ◽  
Tyrosinemia Type 1 ◽  
Renal Tubular ◽  
Hereditary Tyrosinemia

A Fifteen-Year Follow-Up Study on Renal Dysfunction among People Living in Cadmium-Polluted Area

1992 ◽  
Vol 25 (11) ◽  
pp. 157-164 ◽  
Author(s):  
H. Teranishi ◽  
H. Horiguchi ◽  
Y. Morikawa ◽  
M. Nishijo ◽  
K. Iwata ◽  
...  
Keyword(s):  
Polluted Area ◽  
Tubular Damage ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Tubular Damage ◽  
Follow Up Study ◽  
Long Period ◽  
The People ◽  
Renal Tubular

Epidemiologica1 follow-up studies were carried out to clarify the process and prognosis of renal tubular dysfunction induced by cadmium(Cd) among the people living in Cd-polluted area in Toyama Prefecture, Japan. The concentrations of β2-microglobulin(β2-m) were measured among family members of Itai-itai disease (osteomalacia) patients in 1975 and 1985. The data of 93 persons(43 men, 50 women) were compared in 1985 with those of 1975. 15 persons were followed up from 1975 through 1990. β2-microglobulinuria were observed more frequently in the aged than in young persons. The concentrations of urinary β2-m of the 15 parsons showed similar values in 1975, 1983, 1985 and 1990. Itai-itai disease had developed in a woman who showed severe β2-microglobulinuria during this 15 years. There were some cases, however, which showed a decrease of urinary β2-m concentrations in young people who had not been exposed to heavy dosages of Cd. These results indicate that the renal tubular damage by Cd persists over a long period of time and a long follow-up study is needed to prevent its severe health effects.

scholarly journals Osteomalacia as a Late Metabolic Complication of Ifosfamide Chemotherapy in Young Adults: Illustrative Cases and Review of the Literature

Sarcoma ◽  
2007 ◽  
Vol 2007 ◽  
pp. 1-6 ◽  
Author(s):  
D. N. Church ◽  
A. B. Hassan ◽  
S. J. Harper ◽  
C. J. Wakeley ◽  
C. G. A. Price
Keyword(s):  
Case Reports ◽  
Rare Complication ◽  
Tubular Damage ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Review Of The Literature ◽  
Metabolic Complication ◽  
Skeletal Complications ◽  
Renal Tubular ◽  
Platinum Chemotherapy

Purpose. Ifosfamide is a drug commonly used in the management of sarcomas and other solid tumours. One potential toxicity of its use is renal tubular damage, which can lead to skeletal abnormalities; rickets in children and osteomalacia in adults. We aimed to characterise this rare complication in adults.Patients. Three illustrative patient cases treated in our institution are presented. All were treated for sarcoma, and received varying doses of ifosfamide during their therapy.Methods. We performed a review of the literature on the renal tubular and skeletal complications of ifosfamide in adults. Papers were identified by searches of PubMed using the terms “osteomalacia,” “nephrotoxicity,” “Fanconi syndrome,” “ifosfamide,” and “chemotherapy” for articles published between 1970 and 2006. Additional papers were identified from review of references of relevant articles.Results. There are only four case reports of skeletal toxicity secondary to ifosfamide in adults; the majority of data refer to children. Risk factors for development of renal tubular dysfunction and osteodystrophy include platinum chemotherapy, increasing cumulative ifosfamide dose, and reduced nephron mass. The natural history of ifosfamide-induced renal damage is variable, dysfunction may not become apparent until some months after treatment, and may improve or worsen with time.Discussion. Ifosfamide-induced osteomalacia is seldom described in adults. Clinicians should be vigilant for its development, as timely intervention may minimise complications.

Rapid Improvement in the Renal Tubular Dysfunction Associated With Tyrosinemia Following Hepatic Replacement

PEDIATRICS ◽  
1992 ◽  
Vol 89 (2) ◽  
pp. 251-255
Author(s):  
Lawrence R. Shoemaker ◽  
C. Frederic Strife ◽  
William F. Balistreri ◽  
Frederick C. Ryckman
Keyword(s):  
Tubular Function ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Type I ◽  
Rapid Improvement ◽  
Post Transplantation ◽  
Renal Tubular Function ◽  
Patient Reported ◽  
Renal Tubular ◽  
Hereditary Tyrosinemia

The postoperative management of patients with hereditary tyrosinemia type I (McKusick 27670) following liver transplantation is often complicated by the renal tubular dysfunction associated with this disease. To characterize better the temporal course of the improvement in renal excretory activity following hepatic replacement, renal tubular function and metabolite excretion were studied in a 4-year-old girl with hereditary tyrosinemia during the immediate post-transplantation course. Tubular reabsorption of bicarbonate and phosphate were normal 5 days following transplantation, in contrast to glucosuria, hyperaminoaciduria, and tyrosyluria, which persisted for approximately 3 weeks. After hepatic replacement, serum amino acid concentrations returned to normal and succinylacetone was no longer detected in the urine. This is the third tyrosinemia patient reported to achieve complete resolution of urinary abnormalities following transplantation, and the only patient in whom renal tubular function was formally assessed within the first postoperative week.

scholarly journals 5-Azacytidine and renal tubular dysfunction

Blood ◽  
1981 ◽  
Vol 57 (1) ◽  
pp. 182-185
Author(s):  
BA Peterson ◽  
AJ Collins ◽  
NJ Vogelzang ◽  
CD Bloomfield
Keyword(s):  
Renal Toxicity ◽  
Tubular Damage ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Normal Range ◽  
Acid Base ◽  
Salt Wasting ◽  
Renal Tubular ◽  
Renal Abnormalities ◽  
Electrolyte Abnormalities

During initial trials of 5-azacytidine in adults with advanced acute leukemia, we unexpectedly observed acid-base, fluid, and electrolyte abnormalities that contributed directly to the deaths of two early patients. To evaluate this toxicity further, we studied 22 patients who received a total of 33 courses of combination chemotherapy that included 5-azacytidine. During 29 courses (88%) of treatment, polyuria, glucosuria, and/or transient changes in the serum concentrations of bicarbonate or phosphorus were detected. Spontaneous polyuria with demonstrable salt wasting and orthostatic hypotension occurred during seven courses (21%) of treatment. Inappropriate glucosuria was observed in nine courses (27%). In 24 courses (73%) the serum bicarbonate fell below the normal range. The urine became alkaline during 12 of these instances; the anion gap was not increased during the acidosis. Hypophosphatemia with serum phosphorus concentrations as low as 0.3 mg/dl occurred in 21 of 32 evaluable courses (66%). In the three patients studied the tubular reabsorption of phosphorus was 10%-18%. The renal abnormalities that were observed suggest both proximal and distal tubular damage from 5-azacytidine. Patients receiving 5- azacytidine should be monitored closely for manifestations of renal toxicity.

Ifosfamtoe-Induced Fanconi Syndrome

1995 ◽  
Vol 29 (6) ◽  
pp. 590-591 ◽  
Author(s):  
Agustin A Garcia
Keyword(s):  
Adverse Effect ◽  
Fanconi Syndrome ◽  
Hemorrhagic Cystitis ◽  
Concomitant Administration ◽  
Tubular Damage ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Laboratory Findings ◽  
Renal Tubular ◽  
Oral Supplements

Objective: To report a case of possible ifosfamide-induced Fanconi syndrome in an adult with cancer. Case Summary: A 20-year-old man was treated for an osteosarcoma with a chemotherapy regimen that included ifosfamide, methotrexate, and doxorubicin. Three months after completing therapy he developed polyuria, polydypsia, and bilateral ankle pain. Laboratory findings showed decreased serum concentrations of phosphorus, uric acid, calcium, potassium, and bicarbonate; elevated blood urea nitrogen and creatinine; and increased urinary excretion of phosphorus, potassium, calcium, citrate, and protein. The patient was diagnosed with Fanconi syndrome and osteomalacia. Treatment with oral supplements of potassium, sodium, citric acid, calcium, and calcitriol corrected the electrolyte abnormalities. Discussion: The adverse effect most frequently associated with ifosfamide is hemorrhagic cystitis. The incidence of hemorrhagic cystitis is decreased with the concomitant administration of the uroprotective agent mesna. The development of Fanconi syndrome after ifosfamide therapy has been described previously, although it occurs more frequently in children than adults. The mechanism by which ifosfamide causes renal tubular damage is not well understood, but it appears to involve metabolites of the drug. Conclusions: The development of renal tubular defects and renal failure should be considered in patients receiving ifosfamide. Although this complication appears more frequently in children, adults also can be affected. Renal function should be monitored closely to detect the appearance of this adverse effect. Renal tubular dysfunction can, as this case illustrates, develop months after completing chemotherapy.

Hereditary Tyrosinemia of Chronic Course without Rickets and Renal Tubular Dysfunction

1990 ◽  
Vol 79 (11) ◽  
pp. 1063-1068 ◽  
Author(s):  
O. SØVIK ◽  
E. A. KVITTINGEN ◽  
J. STEEN-JOHNSEN ◽  
S. HALVORSEN
Keyword(s):  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Tubular ◽  
Hereditary Tyrosinemia ◽  
Chronic Course

Renal Sodium Handling in Relation to Environmental and Genetic Factors in Untreated Chinese

2020 ◽  
Author(s):  
Yuan-Yuan Kang ◽  
Yi-Bang Cheng ◽  
Qian-Hui Guo ◽  
Chang-Sheng Sheng ◽  
Qi-Fang Huang ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Multiple Testing ◽  
Genetic Factors ◽  
Blood Pressure Monitoring ◽  
Lithium Concentration ◽  
Tubular Dysfunction ◽  
Renal Tubular Dysfunction ◽  
Renal Sodium Handling ◽  
Renal Tubular ◽  
Sodium Handling

Abstract Background We investigated proximal and distal renal tubular sodium handling, as assessed by fractional excretion of lithium (FELi) and fractional distal reabsorption rate of sodium (FDRNa), in relation to environmental and genetic factors in untreated patients. Methods Our study participants were suspected hypertensive patients being off antihypertensive medication for ≥2 weeks and referred for 24-hour ambulatory blood pressure monitoring. We collected serum and 24-hour urine for measurement of sodium, creatinine and lithium concentration, and calculated FELi and FDRNa. We genotyped 19 SNPs associated with renal sodium handling or blood pressure using the ABI SNapShot method. Results The 1409 participants (664 men, 47.1%) had a mean (±SD) age of 51.0±10.5 years. After adjustment for host factors, both FELi and FDRNa were significantly (P≤0.01) associated with season and humidity, explaining ~1.3% and ~3.5% of the variance, respectively. FELi was highest in autumn and lowest in summer and intermediate in spring and winter (P=0.007). FDRNa was also highest in autumn but lowest in winter and intermediate in spring and summer (P<0.001). Neither FELi nor FDRNa was associated with outdoor temperature or atmospheric pressure (P≥0.13). After adjustment for host and environmental factors and Bonferroni multiple testing, among the 19 studied genetic variants, only rs12513375 was significantly associated with FELi and FDRNa (P≤0.004) and explained about 1.7% of the variance. Conclusions Renal sodium handling as measured by endogenous lithium clearance was sensitive to major environmental and genetic factors. Our finding is towards the use of these indexes for the definition of renal tubular dysfunction.

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