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Case Presentation
A case of Nephromegaly


  Dr Nilam Thaker
  Pediatric Nephrologist
  Ahmedabad
Female / 20 months                    20/9/11

   Failure to gain weight and height since 1
    year


Negative history for:

 Repeated fever/cough/cold
 Vomiting/diarrhoea
 Urinary complaints(polyuria/polydipsia)
 Convulsion/behavior changes
 Bony deformity
   Born full term with birth weight – 3.2kg


   Apparently normal for first 6 – 8 months, had an
    episode of diarrhoea lasted for 4-5 days at 8 months
    followed by failure to thrive.
    She was given AKT for 6 months outside !!

   Delayed motor milestones ( not able to stand or walk)

   Only sib

   No significant family history
General Examination

Vitals stable, BP 92/48

Pallor present,

Features of rickets present
(wrist widening, open AF, rickety
  rosary)


Weight – 6.9kg, Height 70cm
 ( expected 11kg , 84 cm)
Systemic Examination
 P/A
       Bilateral enlarged palpable kidneys
       Hepatomegaly 4 cm, firm
       Splenomegaly 2 cm


 CVS       systolic murmur

  RS, CNS unremarkable
Clinical impression

Failure to thrive
Anemia
Rickets
Bilateral nephromegaly
Hepatosplenomegaly
? CHD
Investigations
 Hb 9, TLC 6600, Platelet 3 lac
 Urea 15, Creatinine 0.4
 Bilirubin ( T/D/I) 1.6/0.8/0.8, SGPT 38
 S Protein (T/A/G) 5.5/3.4/2.1
 SAP 867
 Urine routine normal
Investigation
USG Abdomen:
Kidneys- RK 93 X 44, LK 98X 44 both enlarged
  increased echogenicity, normal CMD. No stone,
  HDN, cysts or focal lesion


Liver- enlarged with diffusely altered echotexture,
  no focal mass lesion; CBD,PV- N


Spleen- enlarged with normal echotexture
D/D of Bilateral enlarged kidneys


   Polycystic kidneys
   Hydronephrosis
   Pyelonephritis
   Nephrotic syndrome
   Storage disorders:     GSD type I
                         Tyrosinemia
                         Amyloidosis
My suspected diagnosis….

   ? Storage disorder with secondary
    involvement of kidneys

   ? Hematologic disorder involving
    kidneys and liver

   ? Polycystic kidneys
Further investigations
 Hb 7.8, TLC 7400, Platelet 1.27lac
 PS : hypochromic microcytic RBCs
 Ca 8.29,   Phosph 2.52, SAP 960

   Blood gas: PH 7.38, PCO2 39, HCO3 23.6
   Na 143.4, K 3.58, Cl 102.2



 X ray wrist s/o rickets
 ECHO Apical muscular VSD
Advised further Ix, but not ready to stay


Treatment given

 Calcirol 1 sachet daily 10 d
 Calcimax-P
 Iron
   Multivitamin
Follow up : ( 20 days)
Rickets was improving…

I was still suspecting
  ◦ ?storage disorder
  ◦ ? Hematologic disorder with secondary
    renal
       involvement



Gastroenterologist and hemato oncologist’s
 opinion taken.
Summary of proceedings so far
We have a case who presented
 ◦ with renal complaints,
 ◦ and then during the work-up found to have liver
   involvement which was not advanced on
   presentation



          Differential
 diagnosis?
          Further work-up?
Conditions with liver & kidney involvement


   Wilson’s
   GSD type-I
   Galactosemia
   Hereditary Fructose Intolerance
   Tyrosinemia type I
Further Investigations
   Urine for metabolic screen
     Positive for reducing substance, fructose,
     proteins.

   TMS
     Aminoacid profile s/o raised tyrosine level
     Tyrosine trial I – 317.35µM
            trial II – 330.36µM (normal 20-275)
Confirmation
 Succinyl acetone study from urine by GC-MS
 study

 Urine GC-MS:
 Significant elevation of succinyl acetone
                        4 hydroxy phenyl pyruvate
                        4 hydroxy phenyl lactate
S/O Tyrosinemia type-I
Further Ix 30/11/11

Blood           Unit         Ref range

Succinyl        µmol/L       <0.1        5.9
acetone
Tyrosine        µMol/L       50-130      446.1

Phenylalanine   µMol/L       40-120      74.16

Methionine      µMol/L       20-50       426.23

Alpha feto      µgm/L        <12         35,556
protein
Urine

Succinyl        µmol/mmol    0-2         314.88
acetone         creatinine
Tests                  30/11/11    Normal value

Total Bilirubin        1.6 mg/dl   0-1

Direct Bilirubin       0.5 mg/dl   0-0.6

Indirect Bilirubin     1.1 mg/dl   0-0.4

SGOT                   90 IU/L     15-45

SGPT                   53 IU/L     10-40

GGTP                   200U/L      8-78

Alkaline phosphatase   1175 IU/L   Up to 390

Total protein          4.7 gm%     6.3-8.6

Albumin                2.9 gm%     3.7-5.6

Globulin               1.8 gm%     1.5-3.5

A:G Ratio              1.61        0.9-2
Tests         30/11/11    Normal range


calcium       8.5 mg/dl   8.1-10.4


Phosphorous   1.3 mg/dl   4-7

Sodium        145         135-145

Potassium     2.6         3.5-5.3


Chloride      132         96-109


HCO3          16          22-26


Creatinine    0.3         0.3-0.7
Urine phosphate 9.98mg/dl

 FEP 27                       s/o
 TRP 73 ( N 85-95%)         phosphate
 TmP GFR 1.3 ( N 2.9-4.6)   leak
MRI Abdomen


   Hepatomegaly with cirrhotic changes &
    multiple siderotic nodules. No evidence of
    mass leasion

   Moderate splenomegaly

   Moderately enlarged kidneys with
    parenchymal disease

   No evidence of lymphadenopathy or ascites
Treatment given

   Diet low in tyrosine and phenylalanine
      avoid milk/ dry fruit / high protein food

   Tab NTBC (Nitisinone) 2mg daily after food bd
   Syp Potassium citrate 4ml bd
   Syp Joulie solution 2.5 ml qds

Advised to come for follow up after
one month
Came after 4 months
Blood           Unit      Ref range   30/11/11   3/4/12
Succinyl        µmol/L    < 0.1       5.9        <0.1
acetone

Tyrosine        µMol/L    50-130      446.1      501.25

Phenylalanine   µMol/L    40-120      74.16      129.33

Methionine      µMol/L    20-50       26.234     21.20

Alpha feto      µgm/L     <12         35,556     3093
protein

Urine
Succinyl        µmol/mmol 0-2         314.88     0.08
acetone         creatinine
Tests                30/11/11    3/4/12   Normal value

Total Bilirubin      1.6 mg/dl   1.2      0-1

Direct Bilirubin     0.5 mg/dl   0.7      0-0.6

Indirect Bilirubin   1.1 mg/dl   0.5      0-0.4

SGOT                 90 IU/L     64       15-45

SGPT                 53 IU/L     74       10-40

GGTP                 200U/L      350      8-78

Alkaline             1175 IU/L   321      Up to 390
phosphatase
Total protein        4.7 gm%     6.1      6.3-8.6

Albumin              2.9 gm%     4        3.7-5.6

Globulin             1.8 gm%     2.1      1.5-3.5

A:G Ratio            1.61        1.9      0.9-2
Tests         30/11/11    3/4/11   Normal range


calcium       8.5 mg/dl   9.1      8.1-10.4


Phosphorous   1.3 mg/dl   8.6      4-7

Sodium        145         128      135-145

Potassium     2.6         5.3      3.5-5.3


Chloride      132         98       96-109


HCO3          16          13       22-26


Creatinine    0.3         0.3      0.3-0.7
Treatment modified


 Joulie solution stopped
 Potassium citrate decreased
 Tab sodamint added
 Tab NTBC continued
   Thus there is marked improvement in
    biochemical profile related to tyrosine
    metabolism.



   However morphological changes in liver
    appear quite severe, but hopefully should
    improve if we believe the literature.
Tyrosinemia

 Inborn error in the degradation of the
  amino acid tyrosine.
 Autosomal recessive.
 Three types (type I, type II, type III).
TAT- tyrosine aminotransferase
   Phenylalanin                     4 HPPD - 4 OH phenylpyruvate
                                             dioxygenase
                                  FAH – fumeryl acetoacetate hydrolase
   Tyrosine
   TAT        Tyrosinemia II

   4 hydroxy phenyl pyruvate
4HPPD           Tyrosinemia
                      III
   Homogentisate

   Maleylacetoacetate

   Fumeryl acetoacetate
 FAH
                  Tyrosinemia I

   Fumerate
   Acetoacetate
Tyrosinemia type I

   Deficiency of the enzyme
    fumarylacetoacetate hydrolase (FAH).

    Gene for FAH enzyme located on
    chromosome 15

    More than 30 mutation

   Incidence is 1 in 100000 worldwide
Tyrosinemia type I

        Phenylalanin

        Tyrosine



  Fumeryl acetoacetate           Succinyl
acetoacetate
              Enzyme
               defect
                                   succinyl acetone
                                     inhibit
         Fumerate
        Acetoacetate     δ ALA
porphobilinogen
Pathophysiology
     Fumarylacetoacetate and
       maleylacetoacetate :
         alkylating agents

       hepatorenal damage
       mutagenic properties

        hepatocellular carcinoma
Succinylacetone
   inhibits tubular transport of
            glucose
            aminoacids
            Phosphate
   inhibits porphobilinogen synthase
          accumulation of -aminolevulinate
    acute porphyria-like neurological
     symptoms
   Liver:    severe liver disease with coagulopathy
             cirrhosis
             hepatocellular carcinoma
   Kidneys:    tubular dysfunction
               aminoaciduria, glucosuria, acidosis
               phosphaturia --- rickets


   Nervous system: acute peripheral neuropathy
                        painful paraesthesias
                        neurologic crisis
Clinical presentation

   Less than 6 months of age
    Severe liver involvement with ascites, jaundice, GI
    bleed

   More than 6 months of age
    Renal tubular dysfunctions with acidosis, failure to
    thrive, rickets
     hepatosplenomegaly
     nephromegaly
     peripheral neuropathy
Diagnosis
   Increased succinylacetone concentration in the
    blood and urine

   Elevated plasma concentrations of tyrosine;
    methionine, and phenylalanine


Definative diagnosis
   FAH enzyme activity in skin fibroblasts

   Mutation analysis of FAH gene
Treatment
Diet
      Restriction of phenylalanin and
    tyrosine
       avoid milk and milk product, dry
    fruits,
            high protein food

      allows control of acute crises
        does not prevent progression of the
    illness
NTBC: ( Nitisinone)
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione


 Inhibition of 4-hydroxyphenylpyruvate dioxygenase.


    Effect : abolition of the production of the
    metabolites        responsible for the pathogenesis of
    the disease

   Dose: 0.5 to 2 mg/kg/d
http://www.childrenshospital.org/newenglandconsortium/NBS/descriptions/images/tyro3.gif
Liver transplantation

Reserved for those children who
   have severe liver failure at clinical presentation
    and fail to respond to nitisinone therapy

   have documented evidence of malignant
    changes in hepatic tissue
Prognosis


 Very good with NTBC
 Reversal of morphological changes
 Need for liver transplant may no
  longer be there
A case of nephromegaly

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A case of nephromegaly

  • 1. Case Presentation A case of Nephromegaly Dr Nilam Thaker Pediatric Nephrologist Ahmedabad
  • 2. Female / 20 months 20/9/11  Failure to gain weight and height since 1 year Negative history for:  Repeated fever/cough/cold  Vomiting/diarrhoea  Urinary complaints(polyuria/polydipsia)  Convulsion/behavior changes  Bony deformity
  • 3. Born full term with birth weight – 3.2kg  Apparently normal for first 6 – 8 months, had an episode of diarrhoea lasted for 4-5 days at 8 months followed by failure to thrive. She was given AKT for 6 months outside !!  Delayed motor milestones ( not able to stand or walk)  Only sib  No significant family history
  • 4. General Examination Vitals stable, BP 92/48 Pallor present, Features of rickets present (wrist widening, open AF, rickety rosary) Weight – 6.9kg, Height 70cm ( expected 11kg , 84 cm)
  • 5. Systemic Examination P/A Bilateral enlarged palpable kidneys Hepatomegaly 4 cm, firm Splenomegaly 2 cm CVS systolic murmur RS, CNS unremarkable
  • 6. Clinical impression Failure to thrive Anemia Rickets Bilateral nephromegaly Hepatosplenomegaly ? CHD
  • 7. Investigations  Hb 9, TLC 6600, Platelet 3 lac  Urea 15, Creatinine 0.4  Bilirubin ( T/D/I) 1.6/0.8/0.8, SGPT 38  S Protein (T/A/G) 5.5/3.4/2.1  SAP 867  Urine routine normal
  • 8. Investigation USG Abdomen: Kidneys- RK 93 X 44, LK 98X 44 both enlarged increased echogenicity, normal CMD. No stone, HDN, cysts or focal lesion Liver- enlarged with diffusely altered echotexture, no focal mass lesion; CBD,PV- N Spleen- enlarged with normal echotexture
  • 9. D/D of Bilateral enlarged kidneys  Polycystic kidneys  Hydronephrosis  Pyelonephritis  Nephrotic syndrome  Storage disorders: GSD type I Tyrosinemia Amyloidosis
  • 10. My suspected diagnosis….  ? Storage disorder with secondary involvement of kidneys  ? Hematologic disorder involving kidneys and liver  ? Polycystic kidneys
  • 11. Further investigations  Hb 7.8, TLC 7400, Platelet 1.27lac  PS : hypochromic microcytic RBCs  Ca 8.29, Phosph 2.52, SAP 960  Blood gas: PH 7.38, PCO2 39, HCO3 23.6  Na 143.4, K 3.58, Cl 102.2  X ray wrist s/o rickets  ECHO Apical muscular VSD
  • 12. Advised further Ix, but not ready to stay Treatment given  Calcirol 1 sachet daily 10 d  Calcimax-P  Iron  Multivitamin
  • 13. Follow up : ( 20 days) Rickets was improving… I was still suspecting ◦ ?storage disorder ◦ ? Hematologic disorder with secondary renal involvement Gastroenterologist and hemato oncologist’s opinion taken.
  • 14. Summary of proceedings so far We have a case who presented ◦ with renal complaints, ◦ and then during the work-up found to have liver involvement which was not advanced on presentation Differential diagnosis? Further work-up?
  • 15. Conditions with liver & kidney involvement  Wilson’s  GSD type-I  Galactosemia  Hereditary Fructose Intolerance  Tyrosinemia type I
  • 16. Further Investigations  Urine for metabolic screen Positive for reducing substance, fructose, proteins.  TMS Aminoacid profile s/o raised tyrosine level Tyrosine trial I – 317.35µM trial II – 330.36µM (normal 20-275)
  • 17. Confirmation Succinyl acetone study from urine by GC-MS study Urine GC-MS: Significant elevation of succinyl acetone 4 hydroxy phenyl pyruvate 4 hydroxy phenyl lactate S/O Tyrosinemia type-I
  • 18. Further Ix 30/11/11 Blood Unit Ref range Succinyl µmol/L <0.1 5.9 acetone Tyrosine µMol/L 50-130 446.1 Phenylalanine µMol/L 40-120 74.16 Methionine µMol/L 20-50 426.23 Alpha feto µgm/L <12 35,556 protein Urine Succinyl µmol/mmol 0-2 314.88 acetone creatinine
  • 19. Tests 30/11/11 Normal value Total Bilirubin 1.6 mg/dl 0-1 Direct Bilirubin 0.5 mg/dl 0-0.6 Indirect Bilirubin 1.1 mg/dl 0-0.4 SGOT 90 IU/L 15-45 SGPT 53 IU/L 10-40 GGTP 200U/L 8-78 Alkaline phosphatase 1175 IU/L Up to 390 Total protein 4.7 gm% 6.3-8.6 Albumin 2.9 gm% 3.7-5.6 Globulin 1.8 gm% 1.5-3.5 A:G Ratio 1.61 0.9-2
  • 20. Tests 30/11/11 Normal range calcium 8.5 mg/dl 8.1-10.4 Phosphorous 1.3 mg/dl 4-7 Sodium 145 135-145 Potassium 2.6 3.5-5.3 Chloride 132 96-109 HCO3 16 22-26 Creatinine 0.3 0.3-0.7
  • 21. Urine phosphate 9.98mg/dl FEP 27 s/o TRP 73 ( N 85-95%) phosphate TmP GFR 1.3 ( N 2.9-4.6) leak
  • 22. MRI Abdomen  Hepatomegaly with cirrhotic changes & multiple siderotic nodules. No evidence of mass leasion  Moderate splenomegaly  Moderately enlarged kidneys with parenchymal disease  No evidence of lymphadenopathy or ascites
  • 23. Treatment given  Diet low in tyrosine and phenylalanine avoid milk/ dry fruit / high protein food  Tab NTBC (Nitisinone) 2mg daily after food bd  Syp Potassium citrate 4ml bd  Syp Joulie solution 2.5 ml qds Advised to come for follow up after one month
  • 24. Came after 4 months Blood Unit Ref range 30/11/11 3/4/12 Succinyl µmol/L < 0.1 5.9 <0.1 acetone Tyrosine µMol/L 50-130 446.1 501.25 Phenylalanine µMol/L 40-120 74.16 129.33 Methionine µMol/L 20-50 26.234 21.20 Alpha feto µgm/L <12 35,556 3093 protein Urine Succinyl µmol/mmol 0-2 314.88 0.08 acetone creatinine
  • 25. Tests 30/11/11 3/4/12 Normal value Total Bilirubin 1.6 mg/dl 1.2 0-1 Direct Bilirubin 0.5 mg/dl 0.7 0-0.6 Indirect Bilirubin 1.1 mg/dl 0.5 0-0.4 SGOT 90 IU/L 64 15-45 SGPT 53 IU/L 74 10-40 GGTP 200U/L 350 8-78 Alkaline 1175 IU/L 321 Up to 390 phosphatase Total protein 4.7 gm% 6.1 6.3-8.6 Albumin 2.9 gm% 4 3.7-5.6 Globulin 1.8 gm% 2.1 1.5-3.5 A:G Ratio 1.61 1.9 0.9-2
  • 26. Tests 30/11/11 3/4/11 Normal range calcium 8.5 mg/dl 9.1 8.1-10.4 Phosphorous 1.3 mg/dl 8.6 4-7 Sodium 145 128 135-145 Potassium 2.6 5.3 3.5-5.3 Chloride 132 98 96-109 HCO3 16 13 22-26 Creatinine 0.3 0.3 0.3-0.7
  • 27. Treatment modified  Joulie solution stopped  Potassium citrate decreased  Tab sodamint added  Tab NTBC continued
  • 28. Thus there is marked improvement in biochemical profile related to tyrosine metabolism.  However morphological changes in liver appear quite severe, but hopefully should improve if we believe the literature.
  • 29. Tyrosinemia  Inborn error in the degradation of the amino acid tyrosine.  Autosomal recessive.  Three types (type I, type II, type III).
  • 30. TAT- tyrosine aminotransferase Phenylalanin 4 HPPD - 4 OH phenylpyruvate dioxygenase FAH – fumeryl acetoacetate hydrolase Tyrosine TAT Tyrosinemia II 4 hydroxy phenyl pyruvate 4HPPD Tyrosinemia III Homogentisate Maleylacetoacetate Fumeryl acetoacetate FAH Tyrosinemia I Fumerate Acetoacetate
  • 31. Tyrosinemia type I  Deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).  Gene for FAH enzyme located on chromosome 15  More than 30 mutation  Incidence is 1 in 100000 worldwide
  • 32. Tyrosinemia type I Phenylalanin Tyrosine Fumeryl acetoacetate Succinyl acetoacetate Enzyme defect succinyl acetone inhibit Fumerate Acetoacetate δ ALA porphobilinogen
  • 33. Pathophysiology Fumarylacetoacetate and maleylacetoacetate : alkylating agents hepatorenal damage mutagenic properties hepatocellular carcinoma
  • 34. Succinylacetone  inhibits tubular transport of glucose aminoacids Phosphate  inhibits porphobilinogen synthase accumulation of -aminolevulinate acute porphyria-like neurological symptoms
  • 35. Liver: severe liver disease with coagulopathy cirrhosis hepatocellular carcinoma  Kidneys: tubular dysfunction aminoaciduria, glucosuria, acidosis phosphaturia --- rickets  Nervous system: acute peripheral neuropathy painful paraesthesias neurologic crisis
  • 36. Clinical presentation  Less than 6 months of age Severe liver involvement with ascites, jaundice, GI bleed  More than 6 months of age Renal tubular dysfunctions with acidosis, failure to thrive, rickets hepatosplenomegaly nephromegaly peripheral neuropathy
  • 37. Diagnosis  Increased succinylacetone concentration in the blood and urine  Elevated plasma concentrations of tyrosine; methionine, and phenylalanine Definative diagnosis  FAH enzyme activity in skin fibroblasts  Mutation analysis of FAH gene
  • 38. Treatment Diet Restriction of phenylalanin and tyrosine avoid milk and milk product, dry fruits, high protein food  allows control of acute crises  does not prevent progression of the illness
  • 39. NTBC: ( Nitisinone) 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione  Inhibition of 4-hydroxyphenylpyruvate dioxygenase.  Effect : abolition of the production of the metabolites responsible for the pathogenesis of the disease  Dose: 0.5 to 2 mg/kg/d
  • 41. Liver transplantation Reserved for those children who  have severe liver failure at clinical presentation and fail to respond to nitisinone therapy  have documented evidence of malignant changes in hepatic tissue
  • 42. Prognosis  Very good with NTBC  Reversal of morphological changes  Need for liver transplant may no longer be there