Table 188.1Selected Heritable Renal Disorders a

DisorderMode of inheritanceFeatures
Cystic Disorders
Adult polycysticAutosomal dominantCysts distributed throughout kidney; CRF; adult onset
Juvenile polycysticAutosomal recessiveSimilar features to adult form; CRF in first decade
Juvenile nephronopthisis—cystic medullary diseaseAutosomal recessive (15 to 20% of cases sporadic)Medullary cysts; CRF; adult, juvenile, and renal–retinal variants
Disorders with Predominantly Glomerular Involvement
Alport's syndrome (hereditary nephritis)Autosomal dominant; sex-linked or preferential segregation in some familiesProteinuria, hematuria, CRF; sensorineural deafness; ocular abnormalities
Muckle-Wells syndromeAutosomal dominantAmyloidosis, CRF; deafness
Chacot-Marie-Tooth diseaseAutosomal recessiveProteinuria, nephrotic syndrome; peripheral neuropathy; deafness
Benign familial hematuriaAutosomal dominant or recessiveRecurrent or persistent hematuria
IgA nephropathyFamilial form of uncertain mode of inheritance; usually sporadicRecurrent hematuria
Fabry's diseaseX-linkedProteinuria, hematuria, CRF; hemizygotic females variably affected
Familial Mediterranean feverAutosomal recessiveAmyloidosis, CRF; serositis, arthritis, fever
Congenital nephrotic syndromeAutosomal recessiveNephrotic syndrome, CRF
Disorders Presenting with Renal Tubular Function Abnormalities
RTA, type I (distal)bAutosomal dominantMetabolic acidosis, nephrolithiasis; growth retardation in juvenile-onset forms
RTA, type II (proximal)cAutosomal recessiveUsually occurs with Fanconi's syndrome; growth retardation, rickets
CystinosisAutosomal recessiveRTA, Fanconi's syndrome, growth retardation; proteinuria, nephrotic syndrome, CRF
CystinuriaAutosomal recessiveCystine nephrolithiasis
Primary hyperoxaluriaAutosomal recessiveOxalate nephrolithiasis
Nephrogenic diabetes insipidusX-linkedPolyuria, polydipsia, hypertonic dehydration
Calcium nephrolithiasisUncertainHistory of nephrolithiasis obtainable in up to 25% of first-degree relatives of stone formers
a

This table is not meant to be a comprehensive listing of all heritable renal disorders. Multisystem disorders in which the renal manifestation is unlikely to be the presenting feature as well as a number of more rare disorders have been omitted.

b

Type I RTA may occur alone or as a feature of the autosomal dominant disorders hereditary elliptocytosis and Marfan's syndrome, the usually dominantly inherited Ehlers-Danlos syndrome, or with the recessive disorders, including sickle cell disease, Wilson's disease, and erythrocyte carbonic anhydrase B deficiency.

c

Type II RTA may occur alone or as a feature of the autosomal recessive disorders cystinosis, tyrosinosis, hereditary fructose intolerance, galactosemia, pyruvate carboxylase deficiency, and glucose-6-phosphatase deficiency and the X-linked disorder. Lowe's syndrome.

CRF = chronic renal failure; RTA = renal tubular acidosis.

From: Chapter 188, History of Genitourinary Disease

Cover of Clinical Methods
Clinical Methods: The History, Physical, and Laboratory Examinations. 3rd edition.
Walker HK, Hall WD, Hurst JW, editors.
Boston: Butterworths; 1990.
Copyright © 1990, Butterworth Publishers, a division of Reed Publishing.

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