Table 1 Summary of patient clinical characteristics

Renal involvement

 Renal Fanconi

Presentation: Serum Biochemistry: glucose 90 mg/dL, Urea 13 mg/dL, Creatinine (Cr) 0.3 mg/dL, normal electrolytes -Na 139.3 mmol/L, K 4.8 mmol/L, Cl 107 mmol/L-, Calcium 10.5 mg/dL, P 4.7 mg/dL, eGFR 30.8 ml/min/1.73m ² , diuresis 2.6 ml/kg/h, urine osmolarity 175 mOsm/kg, glycosuria (Uglucose/Cr 13.6 mg/mg) hyperphosphaturia 19.9 mg/kg/day, TRP 77.46%, TmP/GFR3.32 mg/dL, hypercalciuria 7 mg/kg/d, UCalcium/creatinine ratio 0.57 mg/mg proteinuria Uprot/Cr 7.7; β2microgb 30 mg/m2/h, MAU/Cr ratio 0.6 mg/g, aminoaciduria C.Na 0.44% Absence of metabolic acidosis

 Recurrent episodes of dehydration and decompensation of renal Fanconi

 Carnitine deficiency

 Serum Cu within normal limits

 Secondary Hyperparathyroidism

 Small kidneys, abnormal structure, absence of nephrocalcinosis since 2 years of life

 Progressive CKD from 2 years of life

Skeletal features

 Bilateral vertical talus

 Hip dysplasia

 Arthrogryposis

 Bone age retardation

 Impaired growth, partial response to rHGH

Neurological involvement

 Bilateral hypoacusia

 Developmental delay

 Corpus callosum agenesia/hypoplasia

Gastrointestinal involvement

 Feeding difficulties (tube feeding and button gastrostomy)

 Gastro-Esophageal Reflux

 Cow’s Milk intolerance

 Recurrent Transaminitis

 Cholestasis (increased serum bile acids with normal bilirubin)

Skin involvement

 Skin lesions (Lamellar Ichthyosis), pigmentation

 Pruritus

Hematology/Infection

 Iron-deficiency Anemia

 Recurrent Sepsis caused by Staphylococcus aureus

 Bleeding episodes, platelet dysfunction (prolonged bleeding time, reduced aggregability)