Disorders related to Autosome are autosomal disorders • Examples of Autosomal disorder 1. endstream Autosomal Dominant Inheritance Autosomal Dominant Inheritance In determining whether a pattern of autosomal dominant (AD) inheritance is present, several issues may need to be considered: Pedigree Characteristics of Autosomal Dominant Inheritance Each child of an affected person has a 50% risk of inheriting the gene mutation. endobj '. <> 3 0 obj � k�� N���}���})�[�NN�ӖtQ�Fܔ�/#wW(��T�� AUTOSOMAL DISORDER. Definition. Both males and females can be affected, although males may be more severely affected because they only carry one copy of genes found on the X chromosome. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a non-atherosclerotic, non-amyloid cerebral angiopathy involving small arteries and arterioles. Characteristics of Autosomal dominant disorder. d��&��X���a��aـ�J���V 19�Ϫ�'-R�$F޴B�Vt.�@�i>!fH��K�1X\���({��,��=�3O���i�ASZ@h�i�(s <> Huntington’s disease, Marfan syndrome and neurofibromatosis type 1 are common examples of an autosomal dominant genetic disorders. Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. endobj The disorders are associated with deformed, undermineralized bones that ����"�?�� �� endstream endobj startxref 0 %%EOF 51 0 obj <>stream Several factors, such as a nonspecific clinical presentation and relative rarity, impede the phenotyping of ADTKD into clinically relevant subtypes and impair the appropriate implementation of genetic testing. <>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI] >>/MediaBox[ 0 0 720 540] /Contents 15 0 R/Group<>/Tabs/S/StructParents 2>> Genomic imprinting and uniparental disomy, however, may affect inheritance patterns.The divisions between recessive and dominant types are not "hard and fast", although the divisions between autosomal and X-linked types … For example, pedigrees can be analyzed to determine the mode of transmission for a genetic disease: (1) Dominance - whether the disease alleles are dominant or recessive; (2) Linkage - whether the disease alleles are X-linked (on the X chromsome) or autosomal ADPKD and ARPKD are genetically distinct entities that are clinically more dissimilar than alike. Autosomal refers to the fact that whatever gene is involved is found on one of the first 22 chromosomes (called the autosomes) and not on the X or Y chromosome (the sex chromosomes). ;��{ PubMed is a searchable database of medical literature and lists journal articles that discuss Nystagmus 3, congenital, autosomal dominant. Achondroplasia. 13 0 obj (�=�A�ChE�e]�U���t��E���r%��+�B#��h�����Ξ�u�A�3`�]{�������K��\VR��Jum)��%�֊�+���Ν���� �-f�/��US]�NJ��)� 5 0 obj 27 0 obj <> endobj 36 0 obj <>/Filter/FlateDecode/ID[]/Index[27 25]/Info 26 0 R/Length 64/Prev 80645/Root 28 0 R/Size 52/Type/XRef/W[1 2 1]>>stream {"ON���SY>(H'��w�szF�f4��^�����9���K�V�B[yG�WQ���� One would expect that X-linked genes should produce twice h�b```f``��|_@ (��������pjP��уaS���a=+g-KM�0�10$0�100�!�D2��&1�30H~k>P�y��_0XP��I��f�K `�' endstream endobj 28 0 obj <> endobj 29 0 obj <> endobj 30 0 obj <>stream endobj <>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI] >>/MediaBox[ 0 0 720 540] /Contents 4 0 R/Group<>/Tabs/S/StructParents 0>> Both sexes transmit the trait to their offspring. Autosomal Dominant Inheritance Blank Pedigree (PDF) Autosomal Dominant Inheritance Example Pedigree Answers (PDF). endobj <> Signs and symptoms of all forms of ADTKD include slowly worsening kidney disease (often becoming apparent by the teenage years) that ultimately results in end-stage kidney disease at some time between the ages of 20 and 70, depending … Affected offspring must have an affected parent, unless they possess a new mutation. Autosomal dominant is one of many ways that a trait or disorder can be passed down through families. 12 0 obj Autosomal dominant or dominance is a pattern of genetic inheritance that occurs within an autosome (non-sex chromosome).The way we look and function is most commonly the result of dominance of one parental gene over the other. Autosomal Dominant Inheritance Autosomal Dominant Inheritance In determining whether a pattern of autosomal dominant (AD) inheritance is present, several issues may need to be considered: Pedigree Characteristics of Autosomal Dominant Inheritance Each child of an affected person has a 50% risk of inheriting the gene mutation. The incidence of some autosomal dominant disorders is high, at least in specific geographical areas: for example, 1 in 500 for familial hypercholesterolemia in populations of European or Japanesedescent. Successive generations affected. Males and females are equally affected. 10 0 obj Autosomal dominant disorders occur when only one defective copy of an autosomal gene is required to cause disease. Lecture 3Mammalian X-chromosome inactivation Mammalian males and females have one and two X chromosomes respectively. It is characterized by relentless development of kidney cysts, hypertension, and eventually end-stage renal disease (ESRD). <>/XObject<>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI] >>/MediaBox[ 0 0 720 540] /Contents 17 0 R/Group<>/Tabs/S/StructParents 3>> Autosomal dominant With this category, you only need one of these genes to be passed onto you from either parent to receive that trait. Achondroplasia. V��u��� 7NLj�Qñ �!�>C��}ĝ�x}|0�Š��~� x���]k�0����2��s�&-�0?��6�]�]�Y�0+�:ؿ_Zu��l7mSN�����ߏ���1�` ��>� "3:p��M/=(À`�;�h Mgh���0��t��0��AtC`��;g�:ЧiT��S�0[Ր�t��z��Db]��������(�R�bY9���0�xDc���U:�J' ���p��ų$'�����/I(��縨֛zv���� �Ȱڪ���v�3=|�G�v���S����b�G�G��nWI-r��wQ�([VEy����r����nueA�=�I���yy�HJ������0�%ŗ��e����J? ������. Both males and females can be affected, although males may be more severely affected because they only carry one copy of genes found on the X chromosome. 0� ��iM�~/��5�;БD[�i<76-;s�I���٢�(X�� �Vc�#9ˮx�=9���sh�����َ��쾱UpA�m��l���O���r��]v�t^7s&Ԙg�k7u[�hh��\�>�X�>OD�W��s�U�8c�I�7��5������Oϝ�G�B��{��Q-#�`�#�>?��3.���=��;��QO+k�|�j��`9�'��k�feS�)�y�'ѳc��9��i\���1���9�S�)�T �Q!�; ڪ!1H;N8��^��d��z��Q6�zm?�1�[��65oA8�(�X4%d��j�~u��߹���jmm�֮�y�5Nq/g)l�r�V`� ��/c����ߎ����⩖a�!�m�h�Z��~�������ygۧ�3x�i�!����? endobj '��~ Symbols in Pedigrees . <> To date, the bone phenotype in adult patients with autosomal dominant polycystic kidney disease (ADPKD) with stage I and II chronic kidney disease has not been investigated. Mitochondrial. Click on the link to view a sample search on this topic. �7�&����zHO� �q4o�@B۟ʤ�6�YHl1I�搆���dٔ� H��I)QX���������x��� ���SurJ��LuEd�u��"�ɂv�yG��ö�&0;�,8~e��m�~�M�9wδ�Z���y��q���to+���i�։�(۩ųt�m*�PWw��� 11 0 obj 䇜�7�=�b�c��x��"���+��l$;Y�x��3Է;�x��;������5�(E`���Om�&���� j�|lB����.�p-G c�Xw ׁ}b]���Mא�K\�D>jG���cJ�]h�wvL�� �ȮS�mB�4���E;�/:�S�mA��aǔh[P)���d�1%�T��G�S�� �3ݎ�J����ag9;�8�[�Ȗ���܊/|�&�Of�x���Ǵ��=Oy���x����ܖ����X�㍤�+[7Nz���}�߿Tv7��K�=Y� ���‡.�h{�a�oϲ����ӂ����c����x%��a N4�W�R��8=�0��U� =z���! Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder … While there are many different disorders that may present with cystic kidneys, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are the most representative examples. endobj When completing this pedigree with autosomal dominant inheritance, individuals that are non-shaded are expressing the recessive phenotype and have a genotype of “rr”. <> <> Autosomal Dominant Inheritance Blank Pedigree (PDF) Autosomal Dominant Inheritance Example Pedigree Answers (PDF). Examples of Autosomal dominant disorder. Autosomal Dominant Inheritance More than half of all mendelian disorders are inherited as autosomal dominant traits. Autosomal recessive disorders occur when a person has defects in both copies of an autosomal gene (a gene that is located on any of the autosomes) (Figure 3.1B), resulting in “loss of function” (Figure 3.2A).If both copies of the gene have the same deleterious mutation, the defect is termed homozygous. endobj Disorders related to Autosome are autosomal disorders • Examples of Autosomal disorder 1. AUTOSOMAL DISORDER. Disorder transmitted by both sexes. endobj Does not skip generations. ADPKD x�U�M�@���������'M�E�P$��6���ժ�J���}��������$�LSܥ �! Huntington’s disease, Marfan syndrome and neurofibromatosis type 1 are common examples of an autosomal dominant genetic disorders. Usually autosomal dominant (null mutations result in haploinsufficiency, missense mutations often produce a dominant negative effect Null mutations produce a milder form of the disease. eC�v�����k�s�i��lYY4�z#�g3+�SqaA� �5�؏�`��fTJ`2:'��~#C�P�g���:L��0����i݀yA��ZPo-�uՒ2V[|��\����X9��P�6�aדZ��TI�� ����@�w�K+a�LIK�S����ܡ��+]�r�ʖ�n�dE�գ-��~��Ÿ�@�`9��i�s��ߦ��S�^��I��Iey$b��+7,�V*����E�k,�B"��S��C endstream endstream %���� Screening for many autosomal recessive diseases is available. x���nܸ�݀�A/EG��,Q"%A�&�]�M�-��z�-�����z&���m��%�"g469�����_x('�ϟ��{��uQ�xQ�|������.ꪮ놐�/zR���ϗ�G?|Ul����ʌ�k���dЇ����v|T|��UQ8 oR��h����5]��x�,9y��\�����ߗv�b���X�LL��y:���Y���㣓oڢ-N?����5�MW �cS�cq�Z��c�\6lq ���fX��d�P6��s��ԭ�dl�­w�.Ve�-�e��_���d����l�E���Y������G_����LG�1��2)��c��R׆F��W |��$��wM�eӶ@�Pȡ���k�T���`���j|�zZ�RER@F ��һ��º^�K�X�p�֜��q�ڔ��5\n8�����/&\�T~���trHd�5����7��=g5�h��{/����^=t��P.BpĬ�a����� �.�(�d�'��S.��~����|���D޹_�#���$�忧�� !�uxLJ� ��[�R>��B�9S҆����)�'��T$HT�Y` Q��H_ �\J�A'�*��GA��o'R'��A��SQ��k��� �uECR��h��e� �BI�m(:e�,��6rP�[���g;h��V�Ù���?�Q��O�5ů5:�5�ؤ� 7�c�i�$U]�������B>)M�ٔ;*�1�fSR�$驪� l"�f+\[���#�YD��� ���m�7��Uk����S.9�� �fB'�d����)�m��CɧW��F������5����u+���0��`�a�V��>��N�1[�F,� endobj endobj Introduction. Downs syndrome 2. Successive generations affected. Affected offspring must have an affected parent, unless they possess a new mutation. @�W�AΎ4z]����C�fB�ˏޡZ�Ȉ���F� =��?�78$���h��xL��4Bڪb�H�r�N� endobj h�bbd``b`j�@�q�`��\@�CH�� �( �h���Ȱ Click on the link to view a sample search on this topic. <> endstream 16 0 obj @hb]]��Ń�R��\�]32����6����pw�6[������S���v�F��돆����; 19 0 obj Downs syndrome 2. ��,b�����V�'1j���l�A��L����n�>f6m+�t��m���x���_TeʫA] ���ڂ~ 獓1�.�XQvHZ4Z,�N IT� p���'��jh�� %�S ��A��;�ix|HH�\�JX9�������Gl�n ��O;� �,R7�I+�q���W��P°H�� ��F�z�MS*�6;E��z��ڪ��d=���1a ADPKD �>�A�2o�@���� :����;�� :����;�� :����;������G;߫�r��W%�W����jv��^m�;߫ �a�{�;���U�����v���3�>y��Ä>} �a�+�Ov��oG�nG�yv������8�a�w\��++/��%���w`�w�����.D�?ϧkd ���KufY3F�;~�m�V�#�1`3����2�XڌYv�^�5(�X���6�:;#9���>ю��p0(l����Q�-l��8r��V"K�/;~U�Ie����>�8�E%���s�v�'}�����o�^xk�&}Gh��7a��;���4�1�t>�&̴a�;����g���p��o�,Nn��&���)���qF��a;lE���;�O\p̃;�(�A�3��H�k���x�.���`��>���}D�э������2`�gi�t��L e� �v�'g#���d�,d.��Lұ����,0|���Iרy�!c,�H�i�+��|� �����r����N������XvV�g�`��G� ��{���(@����L��"sr��/~ǫ_ H���� ��\� �C��� ����@�g7k�G�� �����Сo�Q���s7�h�;��|�>t ��Ձˮ�|�:pˆ���Fy���B�^e�f@;߫�a��2�*�U�!^�O����a�Z����H��]�6&A�Í��.��c��8Z��aG�v�p�����.d��}�4˘��@s]x'6"�M�#���6� ����ol(���I����NG i-[8GW�;\�6}m;�3ܘf;���e3;�F�s|�|>��s�ю�1�ߜ+������HO���O:9��� ���!��#�Վhi��;���,��w�MmA���v�W�l���$;�.�"|ӎR[�� kŎ��r�]9�oX�g�|\u In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). 1. Both sexes transmit the trait to their offspring. h��X�s�6�W���.�d}��z�|�M�&ݒ��r}`$��JI�D�I���D+��6�ޭy�E� ��$��y,H��,Ș�,���X���X8aa�����0d~��PD�cL&$�" j�,��d,�=��X��g���V�8�\l�8�iV���� ͌���aVW�g!�K����4��&3���1-3�U}����З��p��V��M��M����J���"���a�C9��FT�h/=���bTuU�惬��]S1?�›�0-$j��}���@c{���,�#8૗B.��w(�����`���e� ��~}{�G��!�{��2?xogR����2Nx)`�H�^�ñ�J��j���L��-~�S$KS6r����=��Ը��[A"�԰�$3�lZ}�� �7lQ�����D�f!�uW��'��'�Nz�^&��]����8����}KDAa�dž�4cq�0?òKȋ���b�t�DNm8B������(�T��ﳄ��}���'�q0��7z�����n��6�'��83�h1�Q�c�k�H4N�t�ӓ��yk=l'��@A���@ ��Š_�΀����cCn��/�=K���7TC��h�S�2���f�K'v|��,H�H�$Nm��D�(�Ġ��:f�I��!��p-1���fȍ�x����:��D�c�rF��d��sYh�*_A�FH�3� 8�B%++�(��\C��v�s��6�-h8�W��eɡ� When completing this pedigree with autosomal dominant inheritance, individuals that are non-shaded are expressing the recessive phenotype and have a genotype of “rr”. Examples of Autosomal dominant disorder. Autosomal refers to the fact that whatever gene is involved is found on one of the first 22 chromosomes (called the autosomes) and not on the X or Y chromosome (the sex chromosomes). <> x�흉��F��K�_߳CU�! endobj x���Ak�0����9��J�,ٰ,4���H�B!+��+%k��������ڎ�͖4o�=2,�a�\\�/π�Vpz���8b�(c��4h� �v&�nN����gS��ޡ��8�Gp~��4����8Z\p��2%a��p2�Z��6�Ц��-�n�Ғ��]�z�TΒ;�|��s/d�t�R4�]�[��٣�Do6��L�g��u��J��K�2��| �j�_-�.̶���r��p��“#)���p��^��(�(,�ٔգ_Jј�gT�~�I�ɑ��BR��z�q�����!2x�XY(^�K��v���ΧA�,,�� ����8M��Oe�̮j�+��XN"h���ɜ䌜�ȩ�����;u�է����!)��y��X�XL�q��'-�3/ךf�s��[{@����$A�H��>~a��L�������c�]"�R�d�(�t����u����d|jf|�����{�l)���|�%�Ӣ�i�"�z;-���R�Q? In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). )�0[R�n���.I��+:� %�k��p��Ґ^�H��.��}���K~z���2)�z|�b�[x���m.���Wml�YD��I�AGW%[-�u�ld�����#�^T�~ ����\�ȗT�����(���?�/E���H]'/� =�_���p(��Vn�Q ��AJ/!��ћm�Nu-�����HA3����wh5�9����� •Autosomal dominant disorders •Consepts in autosomal recessive inheritance •Autosomal recessive disorders . ��! �l ���sp�^D ���#E? 8 0 obj Haemophilia 3. Autosomal dominant traits may involve only one organ or part of the body, for example the eye in congenital cataracts. Upon each chromosome, the genes have a strict order, each gene occupying a distinct locus in unison with its counterpart of maternal or paternal origin.. Alleles are alternative forms of genes which arise by mutation, normal types being referred to as 'wild'. Autosomal dominant tubulointerstitial disease (ADTKD) is a dominantly inherited progressive nonglomerular disease. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Does not skip generations. ?K�f��q� 60~���dn*��E��$�ޱ�gS0#.�e��>��Tհ�8W� 20 0 obj %PDF-1.5 Upon each chromosome, the genes have a strict order, each gene occupying a distinct locus in unison with its counterpart of maternal or paternal origin.. Alleles are alternative forms of genes which arise by mutation, normal types being referred to as 'wild'. In an autosomal dominant disease, if you get the abnormal gene from only one parent, you can get the disease. These are also used to determine any Hereditary gene which can be passed on to children leading to passing on the disorder from parent to child. <>>> 17 0 obj <> Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem disorder characterized by the growth of numerous kidney cysts and expansion of kidney volume leading to ESKD in a majority of patients (1,2).Hypertension, gross hematuria, cyst rupture and infection, kidney stones, and flank pain are common kidney complications, whereas extrarenal manifestations include … endobj Odontostomat., 9(1):153-158, 2015. stream 1 0 obj stream Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of genetic kidney diseases that cause progressive loss of kidney function. ꦘ4I�l���;E��R,8p�Z�;ђ���X���/MS��s�^���0W5&� 4 0 obj 3.4 X-Linked Dominant Inheritance. Symbols in Pedigrees . It is characterized by relentless development of kidney cysts, hypertension, and eventually end-stage renal disease (ESRD). Often, one of the parents may also have the disease. <> endobj 14 0 obj This is true even if … Missense mutations that act in a dominant negative manner are often perinatal lethal. endobj Male to male transmission occurs. Haemophilia 3. This is pleiotropy - a single gene that may give rise to two or more apparently unrelated effects. One would expect that X-linked genes should produce twice Autosomal dominant and recessive disorders play a major role in determining the transfer of disease from parents to children. Sex-linked recessive. !�\����. 9 0 obj According to Mendel’s’ laws of inheritance, the different types of Mendelian disorders include: Autosomal dominant. Single-gene disorders can be passed on to subsequent generations in several ways. In medical terms, an autosomal dominant disease describes a disorder caused by a single copy of a mutant gene or allele that is carried by one … J. Characteristics of Autosomal Dominant Disorders: Appears in both sexes with equal frequency. <>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI] >>/MediaBox[ 0 0 720 540] /Contents 8 0 R/Group<>/Tabs/S/StructParents 1>> Characteristics of Autosomal Dominant Disorders: Appears in both sexes with equal frequency. endobj Disorder transmitted by both sexes. 18 0 obj "��"D�0t�G%���U %PDF-1.6 %���� Lecture 3Mammalian X-chromosome inactivation Mammalian males and females have one and two X chromosomes respectively. <> It is common, however, for autosomal dominant disorders to manifest in different systems of the body in a variety of ways. ���c�j�W11�9N���ǧ�y�SO��1���f��5}�f��X��߬I5��=V7�ȼ�XMoO�p-���V�����F�����֍�h��ikl�Z�3mE�v(��"NެWW���ן Males and females are equally affected. Int. 7 0 obj <> Sickle cell anemia 4. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. 1. 6 0 obj endobj �����I��Y�=�?���Ÿ1�3�eql�M �C1�(01�K�t�\�Rmt�^��M�:?�U_����P��IU�S�P,���u�����ʥBo���[6� 15 0 obj There are 44 autosomes in Man comprising 22 homologous pairs of chromosomes. AUTOSOMAL DOMINANT DISORDERS • Variable expressivity: some individuals show more aggressive form of the disease while other showed a milder form of the disease. E˛>�j�K1Y�8�. ˚ ABSTRACT: Genetic disorders occur by excess or absence of chromosomal material, and the consequence of these changes is reflected in morphological and physiological changes. 3.4 X-Linked Dominant Inheritance. Autosomal disorders, which have dominant inheritance, as The study by Olinger et al. As a result, affected individuals have one normal and one mutated allele. )�aڣDd��vOM�:%Xݷ�v{U��}we��c������iX5�4�lAz�'�����4�u�=NlK7�Hd3�[h"ڶ �z� �y�ǤՓ^��#T��Th�|P�ĸ�U7X���i�|��8;; �S��)MRhЪ)�����m0��.�4�6��r~,����w�SJ��T��nRK�!�g�A genetics of inherited diseases. Sex-linked dominant. '. endobj Male to male transmission occurs. stream <> Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal, monogenic human disorder. A single-gene disorder (or monogenic disorder) is the result of a single mutated gene. Dr. Mohamed Saad Daoud 1 ��?�`ȍ�g20�gP��N�>rhR�2���r�a�uOO�a����[ǜ����5��N�4���N���F,�YP����٭�N��CQ��������P�@ڶ������[ER�bC�,��ğ�qC�fB�T���! • Reduced penetrance: is term used to indicate that the disease some time to presenting no abnormal clinical feature • New mutation • Codominance: the presence of two alleles in Autosomal Dominant If the disorder is Autosomal dominant only one infected gene from any one parent is enough to cause the disease in the child. Autosomal recessive. Genetic autosomal dominant disorders: A knowledge review. 2 0 obj ��#�wZ����p��.\�[ n��e�w�\�[�k�΍�|�-����b�)���2��ȑ�t2��^[�ڊ�#�ډ�V�����F��-�b! 7��m0g�(�=��d��0�+�w��;x��L�)@N�OR)��Q��`����AF,��I���i"�8��i�܀mF�`�Ֆ��;ٙ����� �u{؄�'�(�?���Z�#q~Vh�&���{g��*s���Hyd"�[�;�� ���Z6}���I:U��@�IN�Н�6�&�c�[_0��ˡ�BZ�Vp���kQ1Yz�4C4�X�lJ5&÷U8��;+O�1�P�%;P��b/�B�5&��}&ov�$�n���� L���F+������O`��4$ݺ1�uH��q�²����ϩ*����l-��2F3�7H���sV�-t�T���)M��҉���W�޺��9ZԷj��j�7vB0�P�ݺ��~'�vL���)��/���i��fpO�c��[P��[`����|X��c�P[�t�q�Dњq�]�p��&�cѽ=a��&J1� pA�O{2����Fh���hW�w��\3���Si�$|�l��1��*JC��b�u? You need only one mutated gene to be affected by this type of disorder. endobj @����Ύ4z4�j��C�fB� ��̈́^�L4z�0-��h&��/`Z0��Ы�� As in autosomal dominant inheritance, only one copy of a disease allele on the X chromosome is required for an individual to be susceptible to an X-linked dominant disease.. Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016 Fouad T. Chebib, MD, and Vicente E. Torres, MD, PhD A utosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease.