Question of the Week

Question :

Posted On : 17 May 2005

An eight and half years old female child was brought to me with following positive points and investigations: Consanguineous parents { father and mother were real cousins before marriage} Yellow eyes, anasarca with ascites, red urine { duration 1 month} with ? burning micturition.

Past history of hospitalization before five years for fever with altered sensorium –recovered smoothly and completely

Family history of consanguinity. Two previous male sibs died. First at 7 years age. Cause not known. But he had some renal problem at the time of death. Second male sib died at 13 years age with chronic liver disease.{papers are not available}. Third male sib has mental retardation with gait disturbances. She has apparently normal male sibs, one 23 year old and another 11 years old.

On examination - Temp normal . pulse 108,min,BP 130,70 mm of Hg. Yellow sclera, anemia, anasarca, ascites, liver 1.5 cm and spleen 1 cm below costal margin. Conscious, alert, awake,not looking ill.

Investigations: Hb 9.9, TC 12,100, s.bilirubin- total 1.9 { normal upto 1.2} direct 1.4 { normal upto 0.4} indirect 0.5 {normal 0.1 to 1.0}, SGPT 82 , s. alk phosphatase normal, s. protein total 6.1, Albumin 2.76, globulin 3.39, bl sugar random 170 urine Albumin trace, urine sugar plus plus {child had sugarcane juice prior to urine report but not prior to blood reports}, pus cells 13 ,hpf and plenty of RBCs,hpf.
USG abdomen showing right renal and ureteric calculus with mild hydronephrosis with hydroureter.

Are we dealing with genetic ,metabolic disorder? Can you guide us further?

Expert Answer :

No expert answer available.

Answer Discussion :

DR.BHAGANAGARE VIVEK

fanconi's syndrome

19 years ago

skywalky

rule out infection such as hepatitis C which can cause glomerulohepatitis,{rarely also secondary syphilis}

19 years ago

harshal suhas sakle

thalassemia intermedia

19 years ago

pediatriconcall

The child has a chronic liver disease with renal calculi. The calculi itself could be leading to hematuria and hydronephrosis which in turn could be leading to renal dysfunction and hypertension.
One can think of following possiblities to explain both etiologies:
Porphyria
Chronic liver disease leading to oxalate malabsorption and oxaluria leading to oxalate stone
Polycystic kidney disease.
One can do 24 hours urine for calcium, oxalate, uric acid to determine the kind of stone and if unrelated then both liver disease and renal disease may be unrelated.
For liver disease, do viral markers, autoimmune tests, wilsons workup, alpha 1 antitrypsin deficiency, cystic fibrosis and metabolic workup for tyrosinemia and fructosemia.

19 years ago

Question of the Week

Home

Partner Sites