approach failure to thrive

G r a n d R o u n d 1 2 / 2 0 1 0 Page 1

PHYSICAL EXAMINATION

Tuesday, May 11, 2010 At Prasong Tujinda Conference Room

3 4 . 1 3 :

7-8 3 (Infant formula : Similac) 6 10 / , (, , , ) , , , 16-20 onz/day

: 2,700 g, APGAR 9,10 Length 47 cm , , . : 1 3 2 , -,

, : : - 41 160 cm

- 40 163 cm - 5 3 1 13 5 V/S : Temp 37 0C, PR 110/ min, RR 24/min, BP 91/45 mmHg

Length 70 cm (10th P), Wt 8.2 kg (< 3rd P), HC 44.5 cm (25th- 50th P) %BW for Lt = 101.23 %, % Wt for age = 85.4 %, %Ht for age = 90.9 %

Grand Round 12/2010

Case Presentation

.. ..

G r a n d R o u n d 1 2 / 2 0 1 0 Page 2

INVESTIGATION

GA : active, not pale, no jaundice, no dyspnea, no cyanosis , no dysmorphic feature HEENT: Ears intact both tympanic membranes, not injected

Nasal turbinate swelling 2+ both Pharynx and tonsils not injected, tonsilar enlarge 2+, no postnasal drip No teeth eruption seen

Eyes- no nystagmus, no xerophthalmia No thyroid gland enlargement CVS : normal S1 S2 , no murmur Lung : clear, equal breath sounds Abdomen : soft. not tender, no hepatospleenomegaly Skin : no rash or dermatitis Nervous system : Alert Motor power grade V/V all extremities No stiff neck

CBC : Hb 12.1 g/dL, Hct 36.4%, WBC 8,190 /mm3, (N 20%, L 65%) Platlet 336,000 /mm3, MCV 75, MCH 25, RDW 13.6 (PBS: normochromic normocytic RBC) BUN 16, Cr 0.3mg/dL Electrolyte : Na 140, K 4.6, Cl 106, HCO3 19 mmol/L, Total Ca 9.5, PO4 5 mg/dL UA : pH 7, sp.gr. 1.010, protein-neg, suger-neg, ketone-neg, blood-neg, WBC 0-1, RBC

0-1, epi.0-1/LPF Thyroid function test : T3 139.8 ng/dl, T4 9.57 ng/dl, TSH 2.03 uU/ml Film bone age : to be presented

Sessions and Speakers

Speaker Est. Time

., . History and Physical examination 10 min .. Approach failure to thrive: Nutritional aspect 10 min

. Approach normal gap metabolic acidosis 15 min

., . Management RTA and Progression 10 min

.. Summary and Discussion 10 min

G r a n d R o u n d 1 2 / 2 0 1 0 Page 3

Question and answer 5 min

. .

..

NEPHROLOGY GRAND ROUND

Historyy 3 6/12 y 1 3/12 y : y :{ 7-8 6 1 1-2

Historyy 3 (Infant formula : Similac) 16-20 onz/day 2 2/12 1-2 /y 6

1 6 2 8-9 3 1

Historyy 3 1/3 /, , (, , , ) , , , , y y

Historyy 1 3/12 y {Ht 70 cm (10th P), Wt 8.2 kg (< 3rd P), HC 44.5 cm (25th- 50thP ){% Wt for Ht = 101.2 % Normal{% Wt for age = 85.4 % 1st Degree malnutrition{% Ht for age = 90.9 % 1st Degree stuntingy

Historyy Inadequate calories intake advice impoved nutrition BW 400 g in 2 weeks y {CBC : Hb 12.1%, Hct 36.4 g/dL, MCV 75 MCH 25 RDW 13.6

WBC 8,190 /mm3(N 20%, L 65%) Platelet 336,000 /mm3

{ BUN 16 Cr 0.3 mg/dL

Investigationsy Electrolyte : Na 140, K 4.6, Cl 106, HCO3 19 mmol/L, Total Ca 9.5, PO4 5

mg/dL, AG 15 (Normal gap metabolic acidosis)y UA : pH 7, sp.gr.1.010, protein-neg, suger-neg, ketone-neg, blood-neg,

WBC 0-1, RBC 0-1, epi.0-1/LPFy Thyroid function test : { T3 139.8 ng/dl (119-218 ng/dl){ T4 9.57 ng/dl (6.8-13.5 ng/dl){ TSH 2.03 uU/ml (0.6-5.5 uU/ml)

Historyy Genetic FTT Habitual

abortion 3 ) dysmorphic features

41

40

13 1 week 1 week 3 mo. 3

History

y Plasma organic acid , urine organic acid (28/1/51)- normal y DQ(30/1/51 1 4/12 ) 108 (average)y Electrolyte(27/1/51) {Na 136, K 4.3, Cl 104, HCO3 20 mmol/L, AG 12{ BUN 18 Cr 0.3 mg/dLy Urine electrolyte (29/1/51) urine Cr 71.3 mg/dL, Na 48, K 157, Cl 94 mmol/L,

urine AG 111

Historyy Nephrology normal gap metabolic acidosis definite diagnosisy Loss F/U nutrition, nephrology y 2 ..

Historyy : 2,700 g, APGAR 9,10

Length 47 cm , , .y : 2

7-8 1 1 -

Historyy : y :{ 41 160 cm { 40 163 cm { 5 3 1 13

, 5

Physical examinationy V/S : Temp 37 0C, PR 110/ min, RR 24/min, BP 91/45 mmHg y GA : active, not pale, no jaundice, no dysmorphic featurey Ht 88.5 cm (3rd P), Wt 10.7 kg (3rd P), HC 46 cm (< 3rd P )y U:L segment 1.2: 1{% Wt for Ht = 85.6 % 1st Degree westing{% Wt for age = 76.4 % 1st Degree malnutrition{% Ht for age = 92.2 % 1st Degree stunting

160 cm 100 kg 163 cm 64.7 kg

MPH 148.5-161.5 cm

Physical examinationy GA : active, not pale, no jaundice, no dysmorphic featurey HEENT: {Ears intact tympanic membranes both, not injected{Nasal turbinate swelling 2+ both {Pharynx and tonsils not injected, tonsilar enlargement 2+, no

postnasal drip{No teeth eruption seen{Eyes- no nystagmus, no xerophthalmia{No thyroid gland enlargement

Physical examinationy CVS : normal S1 S2 , no murmur y Lung : clear, equal breath soundsy Abdomen : soft. not tender, no hepatospleenomegaly, no mass y Skin : no rash or dermatitisy Nervous system : Alert{Cranial nerve intact{Motor power grade V/V all extremities{No stiff neck

Problem listyMalnutrition yHistory of low calorie intakeyNormal gap metabolic acidosisyFamily history of habitual abortion

Failure to thriveDefinition{Weight below the 3th percentile for age and sex{Weight for age curve falls across two major percentile lines{Weight gain is less than expected

HISTORY AND PHYSICALHISTORY AND PHYSICALEXAMINATIONEXAMINATION

Organic CauseOrganic Cause

Cause Not Cause Not ObviousObvious

Feeding Feeding DisorderDisorder

or or

BehavioralBehavioral

oror

PsychosocialPsychosocial

EtiologyEtiology

InvestigationInvestigation

and and

ManagementManagement

as Indicatedas Indicated

Laboratory Screening Laboratory Screening TestsTests

PositivePositive NegativeNegative

Treatment MalnutritionTreatment Malnutrition

andand

MultidisciplinaryMultidisciplinary

ServicesServices

INFANT WHO HAS FTTINFANT WHO HAS FTT

Differential diagnosisInappropriate intake Increase needs Increase losses

Discomfort or pain associated with eating

Increase metabolic rate(underlying medical conditions)Heart diseasesChronic lung diseasesHyperthyroidismOSADiencephalic syndrome

Increase losses from stool or urineCarbohydrate intoleranceFood protein allergyBulimia nervosaCeliac diseaseShort bowel syndromeIBDPancreatitisCystic fibrosisChronic liver or renal diseasesDMInborn error metabolismRenal tubular acidosis

Oromotor dysfunctionBehavioral issuesDecreased appetiteNon nutrient liquidChronic diseasesMedicationPsychosocial problems Inflammation /infection

Dietary restriction : eating disorders, poverty

Increase activity

Child abuse

. .

Approach to failure to thrive : Nutritional aspect

Investigationsy CBC : Hb 10.8%, Hct 32.8 g/dL, MCV 72.7 MCH 23.9 RDW 14.4

WBC 9,500 /mm3(N 35%, L 56%) Platelet 349,000 /mm3 (PBS: normochromic normocytic RBC)

y BUN 18 Cr 0.3 mg/dLy Electrolyte : Na 139, K 3.9, Cl 109, HCO3 19 mmol/L,

AG 11 (normal gap) Total Ca 8.7, PO4 4.6, Mg 2.0 mg/dL y UA : pH 7, sp.gr.1.010, protein-neg, suger-neg, ketone-neg, blood-

neg, WBC 0-1, RBC 0-1, epi.0-1/LPF

Film bone age : 3 yr (CA 3 4/12yr)

Metabolic Acidosis

Figure obtained from MKSAP Edition 14

Management y Nutrition : Poor intake Food record * 3 daysy Psychiatry : no psychiatric problems, y Endocrine : dysmorphic feature of growth hormone

deficiency, growth velocity (6.4 cm/yr) ,Film BA=CA, growth hormone deficiency

Management y Nephrology Normal gap metabolic acidosis R/O

Renal tubular acidosis y Urine pH 6.5-7y Urine electrolytey urine Cr 81.7 mg/dL, Na 28, K 22.5, Cl 31mmol/Ly urine AG 19.5 abnormal H+ secretion

y Imp: Distal renal tubular acidosis (RTA type 1)

HCO3 loading test

Urine pH 8.2 (on shohl solution 10 ml po q8 hr )Urine electrolyte Na 196, K 55.2, Cl 99 mmol/L, urine Cr 56.7 mg/dl

Electrolyte Na 139, K 4.3, Cl 99, HCO3 23 mmol/L, AG 10 BUN 15.9 Cr 0.4 mg/dl

Urine gas pH 7.94, CO2 37.9, O2 165, HCO3 83.1

VBG pH 7.42, CO2 42.1, O2 36, HCO3 27

Interpretationy FeHCO3= 2.5 % ( < 5){ Interpretation: normal HCO3 reabsorptiony Urine CO2- blood CO2 = 0.8 ( > 20){ Interpretation: abnormal distal acidification

Imp: Distal RTA (type 1)

.

Approach to renal tubular acidosis

. .

Treatment of RTA

Proximal RTAy A mixture of Na+ and K+ salts, preferably citrate, is

preferable.y 10 to 15 meq of alkali/kg may be required per day to stay

ahead of urinary losses.y Thiazide diuretic may be beneficial if large doses of

alkali are ineffective or not well tolerated.

Distal RTAy Bicarbonate wasting is negligible in adults who can generally be

treated with 1 to 2 meq/kg of sodium citrate or bicarbonate.y Potassium citrate, alone or with sodium citrate, is indicated for

persistent hypokalemia or for calcium stone disease.y For patients with hyperkalemic distal RTA, high-sodium, low-

potassium diet plus a thiazide or loop diuretic if necessary.

Hyperkalemic RTAy Treatment and prognosis depends on the underlying cause.y Potassium-retaining drugs should always be withdrawn.y Fludrocortisone therapy may also be useful in

hyporeninemic hypoaldosteronism, preferably in combination with a loop diuretic such as furosemide to reduce the risk of extracellular fluid volume expansion.

Progression

After Rx 2 weeks 4 weeks 6 weeks

BW 10.9 kg 10.9 kg 11.2 kgInvestigation Na140 K 4.2

Cl 107 HCO3 22 mmol/LAG 11BUN 14.7 Cr0.4 mg/dL

UA : pH 5, sp.gr. 1.020, prot-neg, sugar-neg, acetone-neg ,WBC 0-1,RBC 0-1, epi 0-1Urine Ca/Cr 0.16

Treatment M. pot cit (1 mEq/kg/day)

M. pot cit(1 mEq/kg/day)

M. pot cit (1.2 mEq/kg/day)

U/S KUB (2/3/53): RK 5.9*3.4*3.3 cm , LK 6.1*3.1*2.4 cm No evidence of nephrocalcinosis, chronic parenchymatous disease of kidneys, no evidence of stone, mass or hydronephrosis

Take home massage1. Evaluation of Failure to Thrive involves careful History&PE,

observation of feeding session, and should not include routine lab or other diagnostic testing

2. Nutritional deprivation in the infant and toddler age group can have permanent effects on growth and brain development

3. Review causes of Normal-anion gap Metabolic Acidosis{ Renal vs. GI losses

Take home massage4. Distinguish RTA Types 1, 2 and 4{ Type 1: renal stones, hypercalciuria, high urine pH despite metabolic

acidosis{ Type 2: acetazolamide and bicarbonate wasting; Fanconi syndrome{ Type 4: aldosterone deficiency and hyperkalemia

5. Mainstay of treatment of RTABicarbonate therapy

Renal Tubular Acidosis

1. Normal anion gap metabolic acidosis2. Urine pH > 5.5


Investigations

Diagnosis renal tubular acidosis

Pathophysiology

ProximalRTA

(type 2 )

Distal RTA

( type 1 )

Na+

K+

Na-KATPase

3 Na+

2K+

ATPase

ATPase

H+

H+

K+

H2O

OH- HCO3-

Cl-

luminal basolateral

RTA Type 4

ProximalRTA

DistalRTA

Type 4RTA

HCO3-( mmol/L )

Usually12 20

variable Greater than 17

Urine pH Variable,> 5.5 if above threshold

> 5.5 Usually< 5.5

Serum K reduced Usually reduced

increased

Dose of HCO3

10 15 mmol/kg/D

4 14mmol/kg/D

1 3mmol/kg/D

Characteristic of RTA

Na+

K+

Na-KATPase

3 Na+

2K+

ATPase

ATPase

H+

H+

K+

H2O

OH- HCO3-

Cl-

luminal basolateral

Cl-

_

_

_

_

K+

K+

K+

Na+

H+

Na+

glucose

phosphate

amino acid

3Na+

2K+

HCO3-

Na+

OH- +CO2

H2O

Na K

ATPase

Na+

Na+

Na+

HCO3-

HCO3-

HCO3-

Na+

Na+

Na+

Na+

Na+

Na+

Na+

K+

Na-KATPase

3 Na+

2K+

ATPase

ATPase

H+

H+

K+

H2O

OH- HCO3-

Cl-

luminal basolateral

Cl-

Na+

Na+

Na+

Na+

Na+

Na+

_ _

_ _

_ _

_ _

K+

K+

K+

ProximalRTA

DistalRTA

Type 4RTA

HCO3-( mmol/L )

Usually12 20

variable Greater than 17

Urine pH Variable,> 5.5 if above threshold

> 5.5 Usually< 5.5

Serum K reduced Usually reduced

increased

Dose of HCO3

10 15 mmol/kg/D

4 14mmol/kg/D

1 3mmol/kg/D

Characteristic of RTAno nephrocalcinosis nephrocalcinosis



Investigations


Pathophysiology

ProximalRTA

DistalRTA

Urine anion gap

UsuallynegativeIf severepositive

Positive

Urine osmolar gap

< 100 > 100

HCO3 loading test

cation = anion

measured cation + = measured anion +unmeasured cation unmeasured anion

( Na+ + K+ ) + = Cl- +unmeasured cation unmeasured anion

( Na+ + K+ ) Cl- = unmeasured anion -unmeasured cation

Urine anion gap

NH4+

Na+

K+

Na-KATPase

3 Na+

2K+

ATPase

ATPase

H+

H+

K+

H2O

OH- HCO3-

Cl-

luminal basolateral

Cl-NH3

NH4+

cation = anion

measured cation + = measured anion +unmeasured cation unmeasured anion

( Na+ + K+ ) + = Cl-- +unmeasured cation unmeasured anion

( Na+ + K+ ) Cl- = unmeasured anion -unmeasured cation

Urine anion gap

NH4+

ProximalRTA

DistalRTA

Urine anion gap


Positive

Urine osmolar gap

> 100 < 100

HCO3 loading test

urine osmole calculated urine osmole

Urine osmolar gap

2 (Na+K)+ urea + glucose2.8 18

NH4+ no NH4+

ProximalRTA

DistalRTA

Urine anion gap


Positive

Urine osmolar gap

> 100 < 100

HCO3- loading test

FE HCO3-

Urine CO2 -Bl CO2

> 20< 20> 20Urine CO2-Blood CO2

5 15< 5> 15FEHCO3-

RTA type 4

DistalRTA

ProximalRTA

HCO3-loading test

Na+

K+

Na-KATPase

3 Na+

2K+

ATPase

ATPase

H+

H+

K+

H2O

OH- HCO3-

Cl-

luminal basolateral

Cl-HCO3-

H2CO3

H2O +CO2

> 20< 20> 20Urine CO2-Blood CO2

5 15< 5> 15FEHCO3-

RTA type 4

DistalRTA

ProximalRTA

HCO3-loading test



Investigations


4. HCO3-loading test

- FE HCO3- = 27 x 0.4 x 100 = 2.5%23 56.7

- Urine CO2-Blood CO2 = 37.9 42.1= - 4.2

DistalRTA

4. U/S KUB : no nephrocalcinosis

3. Urine anion gap = positive

Etiology of distal RTA

Primary

1.Familial- AD : AE1 gene- AR : with deafness : rd RTA1

or ATP6B1genewithout deafness :

rd RTA2 orr ATP6N1B

2. Sporadic

Secondary

1.Autoimmune2.Drug-toxic3.Tubulointersitial

disease

1-Grand rou..2-NEPHROLOGY_update[1]3-renal tubular acidosis

approach failure to thrive

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