
Contents
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Tubulopathies: basic principles Tubulopathies: basic principles
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Disorders presenting with hypokalaemic acidosis: proximal tubule Disorders presenting with hypokalaemic acidosis: proximal tubule
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Presentation Presentation
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Investigations Investigations
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Treatment Treatment
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Acquired causes of renal Fanconi syndrome Acquired causes of renal Fanconi syndrome
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Drugs/toxins Drugs/toxins
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Renal causes Renal causes
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Further reading Further reading
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Further reading Further reading
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Lowe syndrome and Dent disease Lowe syndrome and Dent disease
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Lowe syndrome Lowe syndrome
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Dent disease Dent disease
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Further reading Further reading
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Further reading Further reading
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Disorders presenting with hypokalaemic acidosis: collecting duct Disorders presenting with hypokalaemic acidosis: collecting duct
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Disorders presenting with hypokalaemic alkalosis Disorders presenting with hypokalaemic alkalosis
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Hypokalaemic alkalosis with hypovolaemia Hypokalaemic alkalosis with hypovolaemia
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Clinical features: Bartter syndrome Clinical features: Bartter syndrome
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Key symptoms Key symptoms
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Additional symptoms Additional symptoms
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Clinical features: Gitelman syndrome Clinical features: Gitelman syndrome
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Clinical features: EAST/SeSAME syndrome Clinical features: EAST/SeSAME syndrome
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Hypokalaemic alkalosis with hypervolaemia Hypokalaemic alkalosis with hypervolaemia
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Investigation Investigation
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Differential diagnosis Differential diagnosis
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Treatment: salt-wasting disorders Treatment: salt-wasting disorders
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Treatment: salt-retaining (hypervolaemic) disorders Treatment: salt-retaining (hypervolaemic) disorders
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Further reading Further reading
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Further reading Further reading
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Disorders presenting with hyperkalaemic acidosis Disorders presenting with hyperkalaemic acidosis
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Clinical features Clinical features
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Pseudohypoaldosteronism Pseudohypoaldosteronism
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Investigations Investigations
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Treatment: PHA1 Treatment: PHA1
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Treatment: PHA2 Treatment: PHA2
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Further reading Further reading
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Further reading Further reading
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Disorders of renal water handling Disorders of renal water handling
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Basic principles Basic principles
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Disorders of renal water handling presenting with hypernatraemia: nephrogenic diabetes insipidus Disorders of renal water handling presenting with hypernatraemia: nephrogenic diabetes insipidus
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Genetics of nephrogenic diabetes insipidus Genetics of nephrogenic diabetes insipidus
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Clinical features (primary nephrogenic diabetes insipidus) Clinical features (primary nephrogenic diabetes insipidus)
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Investigations Investigations
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Water deprivation test and DDAVP® test Water deprivation test and DDAVP® test
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Management of primary nephrogenic diabetes insipidus Management of primary nephrogenic diabetes insipidus
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Diet Diet
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Drug therapy Drug therapy
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Management of NDI during intercurrent illness, and perioperatively Management of NDI during intercurrent illness, and perioperatively
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Acquired (secondary) nephrogenic diabetes insipidus Acquired (secondary) nephrogenic diabetes insipidus
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Further reading Further reading
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Disorders of renal water handling presenting with hyponatraemia: SIADH and nephrogenic syndrome of inappropriate antidiuresis Disorders of renal water handling presenting with hyponatraemia: SIADH and nephrogenic syndrome of inappropriate antidiuresis
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Further reading Further reading
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Disorders of renal magnesium handling Disorders of renal magnesium handling
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Basic principles Basic principles
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Hypomagnesaemia associated with hypercalciuria Hypomagnesaemia associated with hypercalciuria
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Hypomagnesaemia associated with hypocalciuria Hypomagnesaemia associated with hypocalciuria
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Hypomagnesaemia associated with normocalciuria Hypomagnesaemia associated with normocalciuria
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Hypomagnesaemia associated with mitochondrial cytopathies Hypomagnesaemia associated with mitochondrial cytopathies
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Investigations and treatment Investigations and treatment
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Further reading Further reading
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Further reading Further reading
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Rickets Rickets
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General principles General principles
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Further reading Further reading
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Further reading Further reading
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Tubulointerstitial nephritis Tubulointerstitial nephritis
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Basic principles Basic principles
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Clinical features of acute tubulointerstitial nephritis Clinical features of acute tubulointerstitial nephritis
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Causes of acute tubulointerstitial nephritis Causes of acute tubulointerstitial nephritis
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Causes of chronic tubulointerstitial nephritis Causes of chronic tubulointerstitial nephritis
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Laboratory features Laboratory features
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Blood Blood
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Urine Urine
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Renal ultrasound Renal ultrasound
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Ophthalmology review Ophthalmology review
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Renal biopsy Renal biopsy
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Treatment of tubulointerstitial nephritis Treatment of tubulointerstitial nephritis
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Prognosis of tubulointerstitial nephritis Prognosis of tubulointerstitial nephritis
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Further reading Further reading
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Further reading Further reading
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7 C7Tubular disorders
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Published:February 2019
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Abstract
Tubular function is critical for the maintenance of electrolyte and acid–base balance. Consequently, acid–base disorders typically manifest with alterations in plasma electrolyte concentrations and/or pH. Tubular handling of the various electrolytes is often linked on a molecular level. For example, secretion of potassium and protons in the collecting duct is dependent on sodium reabsorption. Consequently, tubular disorders typically present with characteristic patterns of electrolyte and acid–base abnormalities, which can serve as biochemical ‘fingerprints’ for the accurate diagnosis of the underlying disorder. Recognition of these ‘fingerprints’ is critical as correct identification of the underlying disorder is key for appropriate treatment.
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